Myoclonic epilepsies progressive. Medical search. Web

A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)

A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).

A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.

Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)

A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)

A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.

Drugs used to prevent SEIZURES or reduce their severity.

Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.

A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)

Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).

A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)

A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)

A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)

A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."

A compound suggested to be both a nootropic and a neuroprotective agent.

An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)

A fatty acid with anticonvulsant properties used in the treatment of epilepsy. The mechanisms of its therapeutic actions are not well understood. It may act by increasing GAMMA-AMINOBUTYRIC ACID levels in the brain or by altering the properties of voltage dependent sodium channels.

A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)

Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)

A transfer RNA which is specific for carrying lysine to sites on the ribosomes in preparation for protein synthesis.

Factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as "necessary". Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc.

A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)

A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)

A transfer RNA which is specific for carrying leucine to sites on the ribosomes in preparation for protein synthesis.

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

The storing or preserving of video signals for television to be played back later via a transmitter or receiver. Recordings may be made on magnetic tape or discs (VIDEODISC RECORDING).

The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.

A specific pair GROUP C CHROMSOMES of the human chromosome classification.

Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function.

Paired bodies containing mostly GRAY MATTER and forming part of the lateral wall of the THIRD VENTRICLE of the brain.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

A characteristic symptom complex.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)

Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.

A pharmaceutical agent that displays activity as a central nervous system and respiratory stimulant. It is considered a non-competitive GAMMA-AMINOBUTYRIC ACID antagonist. Pentylenetetrazole has been used experimentally to study seizure phenomenon and to identify pharmaceuticals that may control seizure susceptibility.

A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)

Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.

A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.

A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.

A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.

A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. (1/49)

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder characterized by seizures, myoclonus and progression to cerebellar ataxia. EPM1 arises due to mutations in the cystatin B (CSTB) gene which encodes a cysteine proteinase inhibitor. Only a minority of EPM1 alleles carry point mutations, while the majority contain large expansions of the dodecamer CCCCGCCCCGCG repeat which is present at two to three copies in normal individuals. The dodecamer repeat is located in the 5' flanking region of the CSTB gene, presumably in its promoter. The pathological repeat expansion results in a reduction in CSTB mRNA, which may be cell specific. To elucidate the mechanism of this reduction of gene expression, we have studied the putative CSTB promoter in vitro. A 3.8 kb fragment, containing the putative promoter with a 600 bp repeat expansion, showed a 2- to 4-fold reduction in luciferase activity compared with an identical fragment with a normal repeat; this reduction was observed only in certain cell types. Introduction of heterologous DNA fragments of 730 and 1000 bp into the normal promoter, instead of the repeat expansion, showed similarly reduced activity. Terminal deletions of the promoter implicate a putative AP-1 binding site, upstream of the repeat, in CSTB transcription activation. We propose that a novel mechanism of pathogenesis, the altering of the spacing of transcription factor binding sites from each other and/or the transcription initiation site due to repeat expansion, is among the causes of reduction in CSTB expression and thus EPM1. (+info)

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level. (2/49)

The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal muscles, composed predominantly of postmitotic cells, and in the skin, prostate, and testis. The CNS tissues, liver, and spleen showed the least mosaicism. The tissue distribution of somatic mosaicism in patients with SBMA was markedly different from that in patients with Huntington disease (HD) and from that in patients with dentatorubral-pallidoluysian atrophy (DRPLA). The degree of somatic mosaicism correlated with the CAG-repeat number but not with age at examination. Furthermore, tissues with a higher mosaicism level corresponded well to those with a higher expression level of androgen receptor protein. The tissue-specific pattern of somatic mosaicism related not only to cell composition with different cell turnover rates but to repeat size and gene expression levels, and postnatal cell division is unlikely to be a major cause of somatic mosaicism probably because of the relative stability of CAG repeat in SBMA. (+info)

Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study. (3/49)

The object was to describe the clinical, radiological, pathological, and genetic findings in a Spanish family with dentatorubropallidoluysian atrophy (DRPLA). This is an inherited neurodegenerative disease, well recognised in Japan, but with few cases reported from Europe and America and no cases published from Spain. The clinical misdiagnosis of Huntington's disease is not infrequent. Pedigree analysis and clinical data of a family were collected. A genetic study was performed in two patients. Pathological information was obtained from the necropsy of one patient. RESULTS: Pedigree analysis showed an autosomal dominant pattern of inheritance. Age at onset varied from 5 to 55 years. Ataxia and chorea were present in most of the members. Some of these had a long course disease with late dementia. Four patients had seizures and early mental impairment. In one patient, cranial MRI showed cortical, brain stem and cerebellar atrophy, and white matter changes. In another patient, necropsy showed atrophy of the globus pallidus and lipofuscin deposits in dentate and pallidal neuronal cells. Genetic study showed an abnormal CAG triplet expansion in the B37 gene on chromosome 12. As in other cases previously reported, Spanish cases of DRPLA show intrafamilial phenotypic heterogeneity. Clinical and MRI data could differentiate DRPLA from Huntington's disease but definitive diagnosis requires molecular studies. Pathological studies are still necessary to correlate DRPLA brain involvement with the clinical and molecular findings. (+info)

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases. (4/49)

The repeat expansion diseases are a group of genetic disorders resulting from an increase in size or expansion of a specific array of tandem repeats. It has been suggested that DNA secondary structures are responsible for this expansion. If this is so, we would expect that all unstable repeats should form such structures. We show here that the unstable repeat that causes progressive myoclonus epilepsy type-1 (EPM1), like the repeats associated with other diseases in this category, forms a variety of secondary structures. However, EPM1 is unique in that tetraplexes are the only structures likely to form in long unpaired repeat tracts under physiological conditions. (+info)

Interaction between neuronal intranuclear inclusions and promyelocytic leukemia protein nuclear and coiled bodies in CAG repeat diseases. (5/49)

Neuronal intranuclear inclusions (NIIs) are a pathological hallmark of CAG repeat diseases. To elucidate the influence of NII formation on intranuclear substructures, we investigated the relationship of NIIs with nuclear bodies in brains of dentatorubral-pallidoluysian atrophy and Machado-Joseph disease. In both diseases, promyelocytic leukemia protein, a major component of the promyelocytic leukemia protein nuclear bodies, altered the normal distribution and was rearranged around NII, forming a single capsular structure. We further demonstrated that NIIs were present in close contact with coiled bodies, a highly dynamic domain that may be involved in the biogenesis of small nuclear ribonucleoproteins. The preferential association of intranuclear polyglutamine aggregates with coiled bodies was also confirmed in the dentatorubral-pallidoluysian atrophy transgenic mouse brain and culture cells expressing mutant atrophin-1. The results suggest that the interaction between NIIs and nuclear bodies may play a role in the pathogenesis of CAG repeat diseases. (+info)

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. (6/49)

Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene. EPM2A encodes a 331-amino acid protein containing a carboxyl-terminal phosphatase catalytic domain. We demonstrate that the EPM2A gene product also contains an amino-terminal carbohydrate binding domain (CBD) and that the CBD is critical for association with glycogen both in vitro and in vivo. The CBD domain localizes the phosphatase to specific subcellular compartments that correspond to the expression pattern of glycogen processing enzyme, glycogen synthase. Mutations in the CBD result in mis-localization of the phosphatase and thereby suggest that the CBD targets laforin to intracellular glycogen particles where it is likely to function. Thus naturally occurring mutations within the CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatase expression. (+info)

Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (7/49)

BACKGROUND: An increase in CAG trinucleotide repeat length in the androgen receptor (AR) gene has been linked to idiopathic azoospermia. METHODS: In order to test whether other (CAG/CTG)(n) loci are also affected, the (CAG/CTG)(n) frequency distribution at myotonic dystrophy type 1 (DM1), Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 8 (SCA8) loci, in addition to the AR gene, was investigated in 48 azoospermia patients and 47 controls. RESULTS: The median CAG repeat length in the AR gene was significantly longer in azoospermia patients than in controls (23 versus 21, P < 0.001). Significant differences were also noted in the upper tails of trinucleotide repeat length distributions at both DM1 and MJD loci between the two populations. At the DM1 locus, alleles of more than 18 repeats were observed only in azoospermia patients, and not in controls (P = 0.014). At the MJD locus, the frequency of normal alleles (ANs) with 29 or more CAG repeats was also much higher in azoospermia patients (29.2 versus 7.4%; P = 0.0001). However, the repeat length distribution at DRPLA and SCA8 loci did not differ in the two groups. CONCLUSIONS: These data indicated that, at least in a subset of azoospermia patients, there was an increase in the number of trinucleotide repeats in some disease loci. Thus, it is noteworthy to evaluate whether offspring of these azoospermia patients, if born by assisted reproductive technologies, have an increased risk of trinucleotide repeat diseases. (+info)

Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. (8/49)

Recent evidence indicates that transcriptional abnormalities may play an important role in the pathophysiology of polyglutamine diseases. In the present study, we have explored the extent to which polyglutamine-related changes in gene expression may be independent of protein context by comparing mouse models of dentatorubral-pallidoluysian atrophy (DRPLA) and Huntington's disease (HD). Microarray gene expression profiling was conducted in mice of the same background strain in which the same promoter was employed to direct the expression of full-length atrophin-1 or partial huntingtin transproteins (At-65Q or N171-82Q mice). A large number of overlapping gene expression changes were observed in the cerebella of At-65Q and N171-82Q mice. Six of the gene expression changes common to both huntingtin and atrophin-1 transgenic mice were also observed in the cerebella of mouse models expressing full-length mutant ataxin-7 or the androgen receptor. These results demonstrate that some of the gene expression effects of expanded polyglutamine proteins occur independently of protein context. (+info)

Juvenile Myoclonic Epilepsy (JME) is a genetic condition that is characterized by the occurrence of myoclonic seizures, which are sudden, brief, shock-like jerks of muscles typically occurring in the arms and legs. These seizures usually begin in adolescence or early adulthood, between 12 to 18 years of age.

JME is a type of generalized epilepsy, meaning that it involves abnormal electrical activity throughout the brain rather than just one area. In addition to myoclonic seizures, individuals with JME may also experience absence seizures (brief periods of staring and unresponsiveness) and/or tonic-clonic seizures (generalized convulsions).

The condition is often inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the gene mutation from a parent with JME. However, not all cases are familial, and some may result from new genetic changes (mutations) that occur spontaneously.

JME is typically treated with anticonvulsant medications such as valproate or lamotrigine to control seizures. Lifestyle modifications, including avoiding sleep deprivation, stress, and excessive alcohol consumption, may also help reduce the frequency of seizures. With appropriate treatment, most individuals with JME can lead normal or near-normal lives.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain, which can result in a wide range of symptoms, including convulsions, loss of consciousness, and altered sensations or behaviors. Epilepsy can have many different causes, including genetic factors, brain injury, infection, or stroke. In some cases, the cause may be unknown.

There are many different types of seizures that can occur in people with epilepsy, and the specific type of seizure will depend on the location and extent of the abnormal electrical activity in the brain. Some people may experience only one type of seizure, while others may have several different types. Seizures can vary in frequency, from a few per year to dozens or even hundreds per day.

Epilepsy is typically diagnosed based on the patient's history of recurrent seizures and the results of an electroencephalogram (EEG), which measures the electrical activity in the brain. Imaging tests such as MRI or CT scans may also be used to help identify any structural abnormalities in the brain that may be contributing to the seizures.

While there is no cure for epilepsy, it can often be effectively managed with medication. In some cases, surgery may be recommended to remove the area of the brain responsible for the seizures. With proper treatment and management, many people with epilepsy are able to lead normal, productive lives.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Generalized epilepsy is a type of epilepsy characterized by seizures that involve both halves of the brain (generalized onset) from the beginning of the seizure. These types of seizures include tonic-clonic (grand mal) seizures, absence (petit mal) seizures, and myoclonic seizures. Generalized epilepsy can be caused by genetic factors or brain abnormalities, and it is typically treated with medication. People with generalized epilepsy may experience difficulties with learning, memory, and behavior, and they may have a higher risk of injury during a seizure. It's important for individuals with generalized epilepsy to work closely with their healthcare team to manage their condition and reduce the frequency and severity of seizures.

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare mitochondrial disorder, which is a group of genetic disorders that affect the energy production within cells. It is characterized by multiple symptoms including myoclonus (jerky, involuntary muscle spasms), epilepsy (recurrent seizures), ataxia (lack of coordination and balance), dementia, and weakness. The name "MERRF" comes from the characteristic finding of "ragged red fibers" in muscle biopsies when viewed under a microscope using special stains. These fibers are abnormal muscle cells containing clusters of abnormal mitochondria. MERRF is caused by mutations in the mitochondrial DNA, most commonly the A8344G point mutation in the MT-TK gene. It is typically inherited from the mother and can affect multiple organs throughout the body.

NAV1.1, also known as SCN1A, is a type of voltage-gated sodium channel that is primarily expressed in the central nervous system, including the brain and spinal cord. Voltage-gated sodium channels are transmembrane proteins that play a crucial role in the generation and propagation of action potentials in excitable cells such as neurons.

NAV1.1 voltage-gated sodium channels are responsible for the initiation and propagation of action potentials in the axons of neurons. They are composed of a large alpha subunit, which forms the ion conduction pore, and one or more beta subunits, which modulate the properties of the channel.

Mutations in the SCN1A gene, which encodes the NAV1.1 voltage-gated sodium channel, have been associated with several neurological disorders, including generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome, and other forms of epilepsy. These mutations can alter the function of the channel, leading to abnormal neuronal excitability and seizure activity.

Anticonvulsants are a class of drugs used primarily to treat seizure disorders, also known as epilepsy. These medications work by reducing the abnormal electrical activity in the brain that leads to seizures. In addition to their use in treating epilepsy, anticonvulsants are sometimes also prescribed for other conditions, such as neuropathic pain, bipolar disorder, and migraine headaches.

Anticonvulsants can work in different ways to reduce seizure activity. Some medications, such as phenytoin and carbamazepine, work by blocking sodium channels in the brain, which helps to stabilize nerve cell membranes and prevent excessive electrical activity. Other medications, such as valproic acid and gabapentin, increase the levels of a neurotransmitter called gamma-aminobutyric acid (GABA) in the brain, which has a calming effect on nerve cells and helps to reduce seizure activity.

While anticonvulsants are generally effective at reducing seizure frequency and severity, they can also have side effects, such as dizziness, drowsiness, and gastrointestinal symptoms. In some cases, these side effects may be managed by adjusting the dosage or switching to a different medication. It is important for individuals taking anticonvulsants to work closely with their healthcare provider to monitor their response to the medication and make any necessary adjustments.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Reflex epilepsy is a type of epilepsy in which seizures are consistently triggered by specific, recurring sensory stimuli. These triggers can vary widely and may include visual patterns, flashes of light, touch, sound, or even emotional experiences. When the brain receives input from these triggers, it responds with an abnormal electrical discharge that can lead to a seizure.

Reflex epilepsy is relatively rare, accounting for only about 5-10% of all epilepsy cases. It's important to note that not everyone who experiences seizures in response to these triggers has reflex epilepsy; the defining characteristic of this condition is the consistent and reproducible nature of the seizure response to a specific stimulus.

There are several different types of reflex epilepsy, each characterized by its own unique set of triggers. For example, some people with this condition may experience seizures in response to visual patterns or flashes of light (known as photosensitive epilepsy), while others may have seizures triggered by certain sounds or tactile sensations.

Treatment for reflex epilepsy typically involves identifying and avoiding triggers whenever possible, as well as using medication to control seizures. In some cases, surgery may be recommended to remove the specific area of the brain that is responsible for the abnormal electrical activity. With proper treatment and management, many people with reflex epilepsy are able to lead full and active lives.

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Absence epilepsy is a type of epilepsy characterized by recurrent brief episodes of "absences," or staring spells, that can last from a few seconds to several minutes. These episodes are often accompanied by subtle body movements such as lip smacking or eyelid flutters. Absence epilepsy is most commonly diagnosed in children and adolescents, and it is more common in girls than boys.

The seizures in absence epilepsy are caused by abnormal electrical activity in the brain, specifically in a part of the brain called the cortex. These abnormal electrical discharges occur in a pattern that involves both sides of the brain simultaneously. This differs from other types of epilepsy, which may involve only one side of the brain or specific areas within a single hemisphere.

Absence seizures are typically brief and do not cause confusion or disorientation after they end. However, if they occur frequently, they can interfere with learning and social development. In some cases, absence epilepsy may be associated with other types of seizures, such as generalized tonic-clonic (grand mal) seizures or myoclonic jerks.

The diagnosis of absence epilepsy is usually made based on the characteristic symptoms and the results of an electroencephalogram (EEG), which can detect the abnormal electrical activity in the brain during a seizure. Treatment typically involves medication to control the seizures, such as ethosuximide or valproic acid. In some cases, a ketogenic diet may also be recommended as an alternative treatment option.

Tonic-clonic epilepsy, also known as grand mal epilepsy, is a type of generalized seizure that affects the entire brain. This type of epilepsy is characterized by two distinct phases: the tonic phase and the clonic phase.

During the tonic phase, which usually lasts for about 10-20 seconds, the person loses consciousness and their muscles stiffen, causing them to fall to the ground. This can result in injuries if the person falls unexpectedly or hits an object on the way down.

The clonic phase follows immediately after the tonic phase and is characterized by rhythmic jerking movements of the limbs, face, and neck. These movements are caused by alternating contractions and relaxations of the muscles and can last for several minutes. The person may also lose bladder or bowel control during this phase.

After the seizure, the person may feel tired, confused, and disoriented. They may also have a headache, sore muscles, and difficulty remembering what happened during the seizure.

Tonic-clonic epilepsy can be caused by a variety of factors, including genetics, brain injury, infection, or stroke. It is typically diagnosed through a combination of medical history, physical examination, and diagnostic tests such as an electroencephalogram (EEG) or imaging studies. Treatment may include medication, surgery, or dietary changes, depending on the underlying cause and severity of the seizures.

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

Temporal lobe epilepsy (TLE) is a type of focal (localized) epilepsy that originates from the temporal lobes of the brain. The temporal lobes are located on each side of the brain and are involved in processing sensory information, memory, and emotion. TLE is characterized by recurrent seizures that originate from one or both temporal lobes.

The symptoms of TLE can vary depending on the specific area of the temporal lobe that is affected. However, common symptoms include auras (sensory or emotional experiences that occur before a seizure), strange smells or tastes, lip-smacking or chewing movements, and memory problems. Some people with TLE may also experience automatisms (involuntary movements such as picking at clothes or fumbling with objects) during their seizures.

Treatment for TLE typically involves medication to control seizures, although surgery may be recommended in some cases. The goal of treatment is to reduce the frequency and severity of seizures and improve quality of life.

A seizure is an uncontrolled, abnormal firing of neurons (brain cells) that can cause various symptoms such as convulsions, loss of consciousness, altered awareness, or changes in behavior. Seizures can be caused by a variety of factors including epilepsy, brain injury, infection, toxic substances, or genetic disorders. They can also occur without any identifiable cause, known as idiopathic seizures. Seizures are a medical emergency and require immediate attention.

Piracetam is a nootropic drug, which is primarily used in the treatment of cognitive disorders. It is a cyclic derivative of the neurotransmitter GABA (gamma-aminobutyric acid). Piracetam is believed to work by reducing the permeability of cell membranes in the brain, which may enhance communication between neurons and improve memory and learning.

Medically, piracetam is used off-label for a variety of conditions related to cognitive decline or impairment, such as Alzheimer's disease, dementia, and age-related cognitive decline. It has also been studied in the treatment of myoclonus (involuntary muscle jerks), dyslexia, and other neurological disorders.

It is important to note that while piracetam has shown some promise in improving cognitive function in certain populations, its effectiveness is still a subject of ongoing research and debate. Additionally, piracetam is not approved by the U.S. Food and Drug Administration (FDA) for any medical use, although it is available as a dietary supplement in the United States.

As with any medication or supplement, it's important to consult with a healthcare provider before taking piracetam to ensure that it is safe and appropriate for your individual needs.

Infantile spasms, also known as West syndrome, is a rare but serious type of epilepsy that affects infants typically between 4-8 months of age. The spasms are characterized by sudden, brief, and frequent muscle jerks or contractions, often involving the neck, trunk, and arms. These spasms usually occur in clusters and may cause the infant to bend forward or stretch out. Infantile spasms can be a symptom of various underlying neurological conditions and are often associated with developmental delays and regression. Early recognition and treatment are crucial for improving outcomes.

Valproic acid is a medication that is primarily used as an anticonvulsant, which means it is used to treat seizure disorders. It works by increasing the amount of gamma-aminobutyric acid (GABA) in the brain, a neurotransmitter that helps to reduce abnormal electrical activity in the brain. In addition to its use as an anticonvulsant, valproic acid may also be used to treat migraines and bipolar disorder. It is available in various forms, including tablets, capsules, and liquid solutions, and is usually taken by mouth. As with any medication, valproic acid can have side effects, and it is important for patients to be aware of these and to discuss them with their healthcare provider.

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare inherited mitochondrial disorder that affects the body's energy production mechanisms. It is characterized by a combination of symptoms including recurrent headaches, vomiting, seizures, vision loss, hearing impairment, muscle weakness, and stroke-like episodes affecting primarily young adults.

The condition is caused by mutations in the mitochondrial DNA (mtDNA), most commonly the A3243G point mutation in the MT-TL1 gene. The symptoms of MELAS syndrome can vary widely among affected individuals, even within the same family, due to the complex inheritance pattern of mtDNA.

MELAS syndrome is typically diagnosed based on a combination of clinical features, laboratory tests, and genetic testing. Treatment is supportive and aimed at managing individual symptoms as they arise.

Febrile seizures are a type of seizure that occurs in young children, typically between the ages of 6 months and 5 years, and is often associated with fever. A febrile seizure is defined as a convulsion or seizure that is brought on by a high fever, usually greater than 100.4°F (38°C), but can also occur in response to a rapid rise in body temperature. The seizures can vary in length and may involve shaking of the entire body, jerking of the arms and legs, or just twitching of one part of the body. They can be quite alarming to witness, but they are usually harmless and do not cause any long-term neurological problems.

Febrile seizures are most commonly caused by viral infections, such as a cold or flu, but they can also occur with bacterial infections, such as a urinary tract infection or ear infection. In some cases, the fever and seizure may be the first signs that a child is ill.

While febrile seizures are generally harmless, it is important to seek medical attention if your child has a seizure. This is because a small percentage of children who have febrile seizures may go on to develop epilepsy, a condition characterized by recurrent seizures. Additionally, some serious underlying conditions, such as meningitis or encephalitis, can cause fever and seizures, so it is important to rule out these possibilities with a thorough medical evaluation.

If your child has a febrile seizure, the best course of action is to remain calm and make sure they are in a safe place where they cannot injure themselves. Do not try to restrain them or put anything in their mouth. Instead, gently turn them onto their side to prevent choking and call for medical help. Most febrile seizures last only a few minutes and resolve on their own without any treatment. After the seizure, your child may be sleepy or confused, but they should return to their normal state within a short period of time.

I'm happy to help! Here are the definitions for each of those terms:

1. RNA (Ribonucleic Acid): RNA is a nucleic acid that plays a crucial role in the process of gene expression. It carries genetic information from DNA to the ribosomes, where proteins are synthesized. RNA is made up of a long chain of nucleotides, just like DNA, but with some key differences in its structure and composition.
2. Transfer: In the context of biochemistry, "transfer" refers to the movement or transport of molecules from one location to another within a cell or between cells. This process is often facilitated by specific proteins or other molecular carriers.
3. Lys (Lysine): Lysine is an essential amino acid that cannot be synthesized by the human body and must be obtained through diet. It plays important roles in various biological processes, including protein synthesis, enzyme function, hormone production, and energy metabolism. In molecular biology, lysine is often used as a marker for certain types of modifications to proteins or nucleic acids.

Therefore, "RNA, Transfer, Lys" could refer to the transfer RNA (tRNA) molecule that carries a specific amino acid, such as lysine, to the ribosome during protein synthesis. The tRNA molecule recognizes a specific codon on the messenger RNA (mRNA) and brings the corresponding amino acid to the growing polypeptide chain, allowing for the translation of genetic information into a functional protein.

In medical terms, "precipitating factors" refer to specific events, actions, or circumstances that trigger the onset of a disease, symptom, or crisis in an individual who is already vulnerable due to pre-existing conditions. These factors can vary depending on the particular health issue, and they may include things like physical stress, emotional stress, environmental triggers, or changes in medication.

For example, in the context of a heart condition, precipitating factors might include strenuous exercise, exposure to extreme temperatures, or the use of certain drugs that increase heart rate or blood pressure. In mental health, precipitating factors for a depressive episode could include significant life changes such as the loss of a loved one, financial difficulties, or a major life transition.

Identifying and managing precipitating factors is an important aspect of preventative healthcare and disease management, as it can help individuals reduce their risk of experiencing negative health outcomes.

Lafora Disease is a rare, inherited, progressive myoclonus epilepsy (PME) disorder. It is characterized by the accumulation of abnormal glycogen particles called Lafora Bodies in nerve cells (neurons) throughout the body, most prominently in the brain and muscle tissue.

The disease typically begins in late childhood or early adolescence with symptoms such as:
- Seizures (myoclonic jerks, tonic-clonic seizures, absence seizures)
- Visual hallucinations
- Dementia
- Speech difficulties
- Muscle stiffness and rigidity
- Difficulty walking and coordinating movements

Lafora Disease is caused by mutations in either the EPM2A or NHLRC1 gene, which play a role in regulating glycogen metabolism. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

There is currently no cure for Lafora Disease and treatment is focused on managing symptoms with anti-epileptic drugs and supportive care. The prognosis for individuals with Lafora Disease is poor, with most individuals not surviving beyond their mid-20s.

Status epilepticus is a serious and life-threatening medical condition characterized by an ongoing seizure activity or a series of seizures without full recovery of consciousness between them, lasting for 30 minutes or more. It is a neurological emergency that requires immediate medical attention to prevent potential complications such as brain damage, respiratory failure, or even death.

The condition can occur in people with a history of epilepsy or seizure disorders, as well as those without any prior history of seizures. The underlying causes of status epilepticus can vary and may include infection, trauma, stroke, metabolic imbalances, toxins, or other medical conditions that affect the brain's normal functioning. Prompt diagnosis and treatment are crucial to prevent long-term neurological damage and improve outcomes in patients with this condition.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Mitochondrial Encephalomyopathies are a group of genetic disorders that primarily affect the mitochondria, which are the energy-producing structures in cells. "Encephalo" refers to the brain, while "myopathy" refers to muscle disease. Therefore, Mitochondrial Encephalomyopathies are conditions that cause both neurological and muscular symptoms due to impaired mitochondrial function.

These disorders can affect any organ in the body, but they primarily impact the brain, nerves, and muscles. Symptoms may include muscle weakness, seizures, developmental delays, hearing loss, vision loss, heart problems, and lactic acidosis (a buildup of lactic acid in the blood).

Mitochondrial Encephalomyopathies can be caused by mutations in either the mitochondrial DNA or nuclear DNA. They are often inherited from the mother, as mitochondria are passed down through the maternal line. However, some cases can also result from new mutations that occur spontaneously.

Due to the complex nature of these disorders and their varying symptoms, diagnosis and treatment can be challenging. Treatment typically focuses on managing specific symptoms and may include medications, dietary changes, and physical therapy.

A transfer RNA (tRNA) molecule that carries the amino acid leucine is referred to as "tRNA-Leu." This specific tRNA molecule recognizes and binds to a codon (a sequence of three nucleotides in mRNA) during protein synthesis or translation. In this case, tRNA-Leu can recognize and pair with any of the following codons: UUA, UUG, CUU, CUC, CUA, and CUG. Once bound to the mRNA at the ribosome, leucine is added to the growing polypeptide chain through the action of aminoacyl-tRNA synthetase enzymes that catalyze the attachment of specific amino acids to their corresponding tRNAs. This ensures the accurate and efficient production of proteins based on genetic information encoded in mRNA.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

I apologize, but "video recording" is not a term that has a specific medical definition. It generally refers to the process of capturing and storing moving visual images on electronic media, which is used in various medical fields for different purposes such as surgical training, telemedicine consultations, or monitoring patient conditions. However, there is no unique medical meaning associated with this term.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

Sodium channels are specialized protein structures that are embedded in the membranes of excitable cells, such as nerve and muscle cells. They play a crucial role in the generation and transmission of electrical signals in these cells. Sodium channels are responsible for the rapid influx of sodium ions into the cell during the initial phase of an action potential, which is the electrical signal that travels along the membrane of a neuron or muscle fiber. This sudden influx of sodium ions causes the membrane potential to rapidly reverse, leading to the depolarization of the cell. After the action potential, the sodium channels close and become inactivated, preventing further entry of sodium ions and helping to restore the resting membrane potential.

Sodium channels are composed of a large alpha subunit and one or two smaller beta subunits. The alpha subunit forms the ion-conducting pore, while the beta subunits play a role in modulating the function and stability of the channel. Mutations in sodium channel genes have been associated with various inherited diseases, including certain forms of epilepsy, cardiac arrhythmias, and muscle disorders.

The thalamus is a large, paired structure in the brain that serves as a relay station for sensory and motor signals to the cerebral cortex. It is located in the dorsal part of the diencephalon and is made up of two symmetrical halves, each connected to the corresponding cerebral hemisphere.

The thalamus receives inputs from almost all senses, except for the olfactory system, and processes them before sending them to specific areas in the cortex. It also plays a role in regulating consciousness, sleep, and alertness. Additionally, the thalamus is involved in motor control by relaying information between the cerebellum and the motor cortex.

The thalamus is divided into several nuclei, each with distinct connections and functions. Some of these nuclei are involved in sensory processing, while others are involved in motor function or regulation of emotions and cognition. Overall, the thalamus plays a critical role in integrating information from various brain regions and modulating cognitive and emotional processes.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Complex partial epilepsy, also known as temporal lobe epilepsy or focal impaired awareness epilepsy, is a type of epilepsy characterized by recurrent, unprovoked seizures that originate in the temporal lobe or other localized areas of the brain. These seizures typically involve alterations in consciousness or awareness, and may include automatisms (involuntary, repetitive movements), such as lip smacking, fidgeting, or picking at clothes. Complex partial seizures can last from a few seconds to several minutes and may be followed by a post-ictal period of confusion or fatigue.

Complex partial epilepsy is often associated with structural abnormalities in the brain, such as hippocampal sclerosis, tumors, or malformations. It can also be caused by infectious or inflammatory processes, vascular disorders, or genetic factors. The diagnosis of complex partial epilepsy typically involves a thorough neurological evaluation, including a detailed history of seizure symptoms, neuroimaging studies (such as MRI or CT scans), and electroencephalography (EEG) to record brain activity during and between seizures.

Treatment for complex partial epilepsy usually involves medication therapy with antiepileptic drugs (AEDs). In some cases, surgery may be recommended if medications are not effective in controlling seizures or if there is a structural lesion that can be safely removed. Other treatment options may include dietary modifications, such as the ketogenic diet, or vagus nerve stimulation.

Neuroimaging is a medical term that refers to the use of various techniques to either directly or indirectly image the structure, function, or pharmacology of the nervous system. It includes techniques such as computed tomography (CT), magnetic resonance imaging (MRI), functional MRI (fMRI), positron emission tomography (PET), single-photon emission computed tomography (SPECT), and diffusion tensor imaging (DTI). These techniques are used to diagnose and monitor various neurological and psychiatric conditions, as well as to understand the underlying mechanisms of brain function in health and disease.

Pentylenetetrazole (PTZ) is not primarily considered a medical treatment, but rather a research compound used in neuroscience and neurology to study seizure activity and chemically induce seizures in animals for experimental purposes. It is classified as a proconvulsant agent. Medically, it has been used in the past as a medication to treat epilepsy, but its use is now largely historical due to the availability of safer and more effective anticonvulsant drugs.

In a medical or scientific context, Pentylenetetrazole can be defined as:

A chemical compound with the formula C6H5N5O2, which is used in research to investigate seizure activity and induce convulsions in animals. It acts as a non-competitive GABAA receptor antagonist and can lower the seizure threshold. Historically, it has been used as a medication to treat epilepsy, but its use for this purpose is now limited due to the development of safer and more effective anticonvulsant drugs.

Frontal lobe epilepsy is a type of focal epilepsy, which means that the seizures originate from a specific area in the brain called the frontal lobe. The frontal lobe is located at the front part of the brain and is responsible for various functions such as motor function, problem-solving, decision making, emotional expression, and social behavior.

In frontal lobe epilepsy, seizures can be quite varied in their presentation, but they often occur during sleep or wakefulness and may include symptoms such as:

* Brief staring spells or automatisms (such as lip smacking, chewing, or fumbling movements)
* Sudden and frequent falls or drops
* Vocalizations or sounds
* Complex behaviors, such as agitation, aggression, or sexual arousal
* Auras or warning sensations before the seizure

Frontal lobe epilepsy can be difficult to diagnose due to the varied nature of the seizures and their occurrence during sleep. Diagnostic tests such as electroencephalogram (EEG) and imaging studies like magnetic resonance imaging (MRI) may be used to help confirm the diagnosis. Treatment typically involves medication, but in some cases, surgery may be recommended if medications are not effective or cause significant side effects.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of SMN protein necessary for the survival of motor neurons.

There are several types of SMA, classified based on the age of onset and severity of symptoms. The most common type is type 1, also known as Werdnig-Hoffmann disease, which presents in infancy and is characterized by severe muscle weakness, hypotonia, and feeding difficulties. Other types include type 2 (intermediate SMA), type 3 (Kugelberg-Welander disease), and type 4 (adult-onset SMA).

The symptoms of SMA may include muscle wasting, fasciculations, weakness, hypotonia, respiratory difficulties, and mobility impairment. The diagnosis of SMA typically involves genetic testing to confirm the presence of a mutation in the SMN1 gene. Treatment options for SMA may include medications, physical therapy, assistive devices, and respiratory support.

Spinal muscular atrophies (SMAs) of childhood are a group of inherited neuromuscular disorders characterized by degeneration and loss of lower motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The severity and age of onset can vary significantly, with some forms presenting in infancy and others in later childhood or even adulthood.

The most common form of SMA is 5q autosomal recessive SMA, also known as survival motor neuron (SMN) disease, which results from mutations in the SMN1 gene. The severity of this form can range from severe (type I or Werdnig-Hoffmann disease), intermediate (type II or chronic infantile neurodegenerative disorder), to mild (type III or Kugelberg-Welander disease).

Type I SMA is the most severe form, with onset before 6 months of age and rapid progression leading to death within the first two years of life if left untreated. Type II SMA has an onset between 6 and 18 months of age, with affected children never achieving the ability to walk independently. Type III SMA has a later onset, typically after 18 months of age, and is characterized by a slower progression, allowing for the ability to walk unaided, although mobility may be lost over time.

Other forms of childhood-onset SMA include autosomal dominant distal SMA, X-linked SMA, and spinal bulbar muscular atrophy (SBMA or Kennedy's disease). These forms have distinct genetic causes and clinical presentations.

In general, SMAs are characterized by muscle weakness, hypotonia, fasciculations, tongue atrophy, and depressed or absent deep tendon reflexes. Respiratory and nutritional support is often required in more severe cases. Recent advances in gene therapy have led to the development of disease-modifying treatments for some forms of SMA.

Survival of Motor Neuron 1 (SMN1) protein is a critical component for the survival of motor neurons, which are nerve cells that control muscle movements. The SMN1 protein is produced by the Survival of Motor Neuron 1 gene, located on human chromosome 5q13.

The primary function of the SMN1 protein is to assist in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for spliceosomes - complex molecular machines responsible for RNA processing in the cell. The absence or significant reduction of SMN1 protein leads to defective snRNP assembly, impaired RNA splicing, and ultimately results in motor neuron degeneration.

Mutations in the SMN1 gene can cause Spinal Muscular Atrophy (SMA), a genetic disorder characterized by progressive muscle weakness, atrophy, and paralysis due to the loss of lower motor neurons in the spinal cord. The severity of SMA depends on the amount of functional SMN1 protein produced, with less protein leading to more severe symptoms.

The Survival Motor Neuron (SMN) complex is a protein complex that plays a crucial role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential components of the spliceosome involved in pre-messenger RNA (pre-mRNA) splicing. The SMN complex consists of several proteins, including the SMN protein itself, Gemins2-8, and unrip.

The SMN protein is the central component of the complex and is encoded by the SMN1 gene located on chromosome 5q13.2. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.

The SMN complex assembles in the cytoplasm and facilitates the assembly of spliceosomal snRNPs by helping to load Sm proteins onto small nuclear RNA (snRNA) molecules. Proper functioning of the SMN complex is essential for the correct splicing of pre-mRNA, and its dysfunction can lead to various developmental abnormalities and diseases, including SMA.

Survival of Motor Neuron 2 (SMN2) protein is a functional copy of the Survival of Motor Neuron (SMN) protein, which is produced from the SMN2 gene. The SMN protein is crucial for the survival of motor neurons, the nerve cells that control muscle movement. In people with spinal muscular atrophy (SMA), a genetic disorder that causes progressive muscle weakness and loss of movement, there is a mutation in the main SMN1 gene that leads to reduced levels of functional SMN protein.

The SMN2 gene can also produce some functional SMN protein, but it mainly produces an unstable, truncated form of the protein due to a critical difference in its exon 7 splicing pattern. However, a small percentage (about 10-15%) of SMN2 transcripts can be correctly spliced and produce full-length, functional SMN protein. The amount of functional SMN protein produced from the SMN2 gene is directly related to the severity of SMA; more SMN protein production from SMN2 leads to less severe symptoms. Therefore, therapies aimed at increasing SMN2-derived SMN protein levels are being developed and tested for the treatment of SMA.

The spinal cord is a major part of the nervous system, extending from the brainstem and continuing down to the lower back. It is a slender, tubular bundle of nerve fibers (axons) and support cells (glial cells) that carries signals between the brain and the rest of the body. The spinal cord primarily serves as a conduit for motor information, which travels from the brain to the muscles, and sensory information, which travels from the body to the brain. It also contains neurons that can independently process and respond to information within the spinal cord without direct input from the brain.

The spinal cord is protected by the bony vertebral column (spine) and is divided into 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. Each segment corresponds to a specific region of the body and gives rise to pairs of spinal nerves that exit through the intervertebral foramina at each level.

The spinal cord is responsible for several vital functions, including:

1. Reflexes: Simple reflex actions, such as the withdrawal reflex when touching a hot surface, are mediated by the spinal cord without involving the brain.
2. Muscle control: The spinal cord carries motor signals from the brain to the muscles, enabling voluntary movement and muscle tone regulation.
3. Sensory perception: The spinal cord transmits sensory information, such as touch, temperature, pain, and vibration, from the body to the brain for processing and awareness.
4. Autonomic functions: The sympathetic and parasympathetic divisions of the autonomic nervous system originate in the thoracolumbar and sacral regions of the spinal cord, respectively, controlling involuntary physiological responses like heart rate, blood pressure, digestion, and respiration.

Damage to the spinal cord can result in various degrees of paralysis or loss of sensation below the level of injury, depending on the severity and location of the damage.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very ... "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24. Zhou, J.; Tawk, M ... "Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1". The American Journal ... "Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature". Neuropediatrics ...

https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy

... were found in patients with progressive myoclonic epilepsy (PME) and dystonia or progressive hypokinetic-rigid syndrome. ... Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T,C ... Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T,C ... and progressive dystonia. Adult-onset phenotypes have not been reported. ...

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Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study. Epileptic Disord. ... Add-on therapy with topiramate in progressive myoclonic epilepsy. Epilepsy Behav. 2005;6:260-263. ... Uthman and Reichl, 2002] Uthman B.M., Reichl A. Progressive myoclonic epilepsies. Curr Treat Options Neurol. 2002;4:3-17. ... Crest et al., 2004] Crest C., Dupont S., Leguern E. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 ...

https://www.jle.com/en/revues/epd/e-docs/selective_deep_brain_stimulation_in_the_substantia_nigra_reduces_myoclonus_in_progressive_myoclonic_epilepsy_a_novel_observation_and_short_review_of_the_literature_314756/article.phtml?tab=references

Variants in the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This ... Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin ... Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: ... Spinal muscular atrophy with progressive myoclonic epilepsy. ... myoclonic epilepsy) that begin in childhood. The ASAH1 gene ...

https://medlineplus.gov/genetics/gene/asah1/

... juvenile myoclonic epilepsy), myoclonic epilepsy, developmental delay, intellectual disability, autism spectrum disorder, and/ ... The main seizure types are myoclonic or tonic-clonic with frequent nocturnal occurrence. Individuals with heterozygous PRICKLE1 ... with ataxia characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of ... Individuals with biallelic PRICKLE1-related disorders typically present with progressive myoclonus epilepsy (PME) ...

https://https.ncbi.nlm.nih.gov/medgen/394003

Photosensitivity is found in about 5% of all epilepsies, usually IGE, but occurring also in progressive myoclonic epilepsies ... Progressive myoclonic epilepsies (PME). Specific disorders manifesting as PME share common neurophysiological features- ... Benign childhood epilepsy syndromes. In benign childhood epilepsy with centro-temporal spikes (benign rolandic epilepsy), the ... USES OF EEG IN DIAGNOSIS OF EPILEPSY. EEG helps determine seizure type and epilepsy syndrome in patients with epilepsy, and ...

https://jnnp.bmj.com/content/76/suppl_2/ii2.full

Myoclonic seizures are characterized by rapid, jerklike movements that can affect the face, limbs, or axial musculature. Most ... Progressive myoclonic epilepsies [7] - In this class of myoclonic epilepsies, seizures occur in the context of an underlying ... Myoclonic Epilepsy Beginning in Infancy or Early Childhood * Sections Myoclonic Epilepsy Beginning in Infancy or Early ... Myoclonic seizures can occur in isolation or as part of a mixed-generalized epilepsy syndrome. Myoclonic epilepsies with onset ...

https://emedicine.medscape.com/article/1176055-overview

ULD is another progressive myoclonic epilepsy with preserved intellect. The main distinction between PME4 and ULD is the ... PME4, previously called action myoclonus-renal failure syndrome (AMRF), is a progressive epilepsy disorder in which cognition ... Brain 127(Pt 10):2173-2182, 2004). PME4 usually presents in the second decade of life as tremors and myoclonic jerks which ... The progressive myoclonic epilepsies (PMEs) are a heterogeneous group of seizure disorders characterized by myoclonus and often ...

https://www.preventiongenetics.com/testInfo?val=Progressive-Myoclonic-Epilepsy%2C-With-or-Without-Renal-Failure%2C-via-the-SCARB2-Gene

Everything You Need To Know About Myoclonic Epilepsy. Myoclonic epilepsy is generally identified by myoclonic seizures or jerks ... NEUROLOGIST IN INDORE #ASIAN NEURO CENTRE INDORE #neurologist in Indore #Epilepsy treatment in indore #epilpesy camp in indore ... Myoclonic Epilepsy Causes. *Myoclonic Epilepsy Symptoms. *Myoclonic Epilepsy Treatment. *myoclonic epilepsy treatment in indore ...

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... encompasses a group of challenging epilepsy syndromes. As a group, SGE has 3 main features: (1) multiple seizure types, ... Progressive myoclonic epilepsy. This is a group of epilepsies secondary to metabolic and neurodegenerative conditions. This ... Dementia follows seizure onset and is progressive. Specific syndromes of progressive myoclonic epilepsy with key clinical ... Epilepsy with myoclonic atonic status and epilepsy with myoclonic absence. These can essentially be viewed as variants of ...

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Progressive myoclonic epilepsy. Neuronal ceroid lipofucsinosis. Lennox Gastaut syndrome. Progressive myoclonic atonic epilepsy ... Progressive myoclonic epilepsy. Acute disseminated encephalo-myelitis. ...

https://wwwnc.cdc.gov/eid/content/9/10/1333-t1.htm

We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic ... A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. ... We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic ...

https://www.pacb.com/publications/a-12-kb-structural-variation-in-progressive-myoclonic-epilepsy-was-newly-identified-by-long-read-whole-genome-sequencing/

... Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and ... rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy ... phenotypically characterized by myoclonic and generalized seizures with progressive neurological deterioration. SMA-PME is a ...

https://pesquisa.bvsalud.org/portal/resource/es/mdl-37280710

... in Progressive Myoclonic Epilepsy-7 (EPM7). 13th June 2023. in Portfolio News ... and might one day also bring benefits to patients suffering from other forms of myoclonic epilepsy, which we will be looking to ... Epilepsy is a brain disorder that causes recurring, unprovoked seizures. It is the fourth most common neurological disorder ... Patients with EPM7 have a very rare form of epilepsy, caused by reduced function of Kv3.1 ion channels, which gives rise to ...

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Progressive myoclonic epilepsy (Laforas disease). Clare Rusbridge is the chief veterinary collaborator for an ongoing project ... After diagnosing this rare progressive myoclonic epilepsy in a canine patient in 2001, she links with Dr. Berge Minassian to ... The successful outcome was the first description of a mutation causing canine epilepsy and the first example of a tandem repeat ...

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Myoclonic epilepsy and ragged-red fibers (MERRF) *progressive myoclonic epilepsy. *clumps of diseased mitochondria accumulate ... Progressive external ophthalmoplegia (PEO) progressive ophthalmoparesis is the cardinal feature Leber hereditary optic ... Children usually die from infection or progressive neurological loss. Patients with types C and D are frequently placed on a ... This enzyme deficiency results in the build-up of phenylalanine in the blood, which in turn results in progressive ...

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Spinal muscular atrophy with progressive myoclonic epilepsy: MedlinePlus Genetics (National Library of Medicine) ...

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Spinal muscular atrophy with progressive myoclonic epilepsy ... variants. The parents of an individual with an autosomal ... Hereditary myoclonus with progressive distal muscular atrophy Jankovic-Rivera syndrome SMA-PME SMAPME ... ...

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Spinal muscular atrophy with progressive myoclonic epilepsy. A preclinical development of a gene therapy using an AAV vector ...

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To attempt to record disease-specific patterns in the proper clinical setting, such as progressive myoclonic epilepsies, CJD, ... Unverricht-Lundborg disease (ULD) (ie, Baltic myoclonus) is an autosomal recessive progressive myoclonic epilepsy syndrome. ULD ... Progressive supranuclear palsy. Progressive supranuclear palsy (PSP) causes decreased ocular motility, rigidity, dementia, ... A commonly overlooked progressive encephalopathy in girls. Am J Dis Child. 1986 Aug. 140(8):761-5. [QxMD MEDLINE Link]. ...

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Efficacy of zonisamide in Laforas disease case and brief review of its use in progressive myoclonic epilepsy]. Rubio-Nazábal E ...

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Partial Motor Epilepsy. Partial Seizure. Partial Sensory Epilepsy. Post-Traumatic Epilepsy. Progressive Myoclonic Epilepsies ... Racial/ethnic disparities in the treatment of epilepsy: what do we know? What do we need to know? Epilepsy & behavior : E&B, 9 ... Racial/ethnic disparities in the treatment of epilepsy: what do we know? What do we need to know? Epilepsy & behavior : E&B, 9 ... Assessment of adverse events and quality of life in epilepsy: design of a new community-based trial Epilepsy & behavior : E&B, ...

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Myoclonic Astatic Epilepsy. Non-Progressive Encephalopathy. Obsessive Compulsive Disorder. Ocular Motor Apraxia. Osteogenesis ... Pschomotor Retardation Epilepsy. Refractory Epilepsy. Respiratory Distress Disorder. Restless Leg Syndrome. Retts Syndrome. ... Epilepsy. Fetal Alcohol Spectrum Disorder. Fine Motor Delays. Fragile X. Gastroschsis. Global Developmental Delay. ... Intractable Epilepsy. Ischemic stroke. Laryngomalacia. Lennox Gastaut Syndrome. Mental Retardation. Metachromatic ...

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Most patients with progressive myoclonic epilepsy associated with GD3 do not fare well. Also those with the cardiac variant ... Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res. 2003 Mar. 53(3): ... Progressive infiltration of Gaucher cells in the bone marrow may lead to thinning of the cortex, pathologic fractures, bone ... Type 3 Gaucher disease often is a less rapidly progressive neurovisceral storage disease, but it does have the largest ...

https://reference.medscape.com/article/944157-overview

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Human Molecular ... Chaves, J., Beirão, I., Balreira, A., Gaspar, P., et al. (2011). Progressive myoclonus epilepsy with nephropathy C1q due to ...

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Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family ... Early-onset childhood dentatorubral-pallidoluysian atrophy involved mental retardation, whereas myoclonic epilepsy was the ... suggest that DRPLA gene testing should be performed in any child presenting with a variable combination of myoclonic epilepsy, ...

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Epilepsy, Progressive Myoclonic 7. Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Myoclonus. ... Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive gait ataxia, Progressive cerebellar a.... ORPHA:101112. ... Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil.... OMIM:617924. ... Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure. OMIM:616341. Leukodystrophy, Hypomyelinating, 7, With ...

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Myoclonic Epilepsies, Progressive 1 0 Ovarian Diseases 1 0 Psychological Tests 1 0 ...

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Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. (wikipedia.org)
Vossler D.G., Conry J.A., Murphy J.V. Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study. (jle.com)
This condition is characterized by muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy) that begin in childhood. (medlineplus.gov)
Individuals with biallelic PRICKLE1-related disorders typically present with progressive myoclonus epilepsy (PME) with ataxia characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of neurologic regression mainly presenting with ataxia, and mild cognitive impairment or normal cognition. (nih.gov)
Individuals with heterozygous PRICKLE1 pathogenic variants have presented with non-PME seizures (isolated myoclonic seizures, juvenile myoclonic epilepsy), myoclonic epilepsy, developmental delay, intellectual disability, autism spectrum disorder, and/or central nervous system malformations. (nih.gov)
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. (nih.gov)
Myoclonic seizures are characterized by rapid, jerklike movements that can affect the face, limbs, or axial musculature. (medscape.com)
In contrast to sleep-related myoclonus, myoclonic seizures occur during wakefulness and are associated with abnormal cortical discharges on EEG. (medscape.com)
Myoclonic seizures can occur in isolation or as part of a mixed-generalized epilepsy syndrome. (medscape.com)
EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup). (medscape.com)
The mainstays of therapy for myoclonic seizures are valproic acid (sodium valproate) and benzodiazepines (see Treatment). (medscape.com)
Some anticonvulsants may precipitate myoclonic seizures in predisposed individuals. (medscape.com)
Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. (medscape.com)
Seizures associated with early myoclonic encephalopathy can be due to a number of etiologies. (medscape.com)
The International League Against Epilepsy (ILAE) revised concepts and terminology related to the classification and description of seizures in 2010. (medscape.com)
[ 7 ] - In this class of myoclonic epilepsies, seizures occur in the context of an underlying neurodegenerative disorder. (medscape.com)
Across subtypes of childhood myoclonic epilepsy, many patients have an underlying genetic cause for their seizures. (medscape.com)
Myoclonic epilepsy is generally identified by myoclonic seizures or jerks- sudden, unintended muscle contraction or spasm. (asianneurocentre.com)
PME4 usually presents in the second decade of life as tremors and myoclonic jerks which progress into clonic-tonic seizures. (preventiongenetics.com)
In Ohtahara syndrome, tonic spasms are the dominant seizure type, with little to no myoclonic seizures. (medscape.com)
The seizure onset is often in childhood and is characterized by intractable myoclonic jerks with tonic-clonic seizures and massive myoclonic seizures. (medscape.com)
A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by myoclonic and generalized seizures with progressive neurological deterioration. (bvsalud.org)
Epilepsy is a brain disorder that causes recurring, unprovoked seizures. (svhealthinvestors.com)
Patients with EPM7 have a very rare form of epilepsy, caused by reduced function of Kv3.1 ion channels, which gives rise to myoclonic seizures (brief shock-like jerks of a muscle or a group of muscles), action-induced myoclonus and a progressive ataxia (impairing co-ordination, balance and speech). (svhealthinvestors.com)
Differences in paracingulate connectivity associated with epileptiform discharges and uncontrolled seizures in genetic generalized epilepsy. (uc.edu)
Comparisons of childhood trauma, alexithymia, and defensive styles in patients with psychogenic non-epileptic seizures vs. epilepsy: Implications for the etiology of conversion disorder. (uc.edu)
She has a wide range of interests within this field and provides care for those with new onset seizures, refractory epilepsy requiring surgical evaluation, and everything in between. (uchealth.com)
2 It is characterized by onset in childhood or adolescence of grand mal seizures, myoclonic jerks, and dementia, all of which tend to progress ad mortem. (jamanetwork.com)
Myoclonic seizures are poorly controlled by the standard antiepileptics. (medscape.com)

citation needed] Spinal muscular atrophies Progressive myoclonus epilepsy Haliloglu, G. (wikipedia.org)
[Genton and Guerrini, 1990] Genton P., Guerrini R. Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. (jle.com)
Genton P., Striano P., Minassian B.A. The history of progressive myoclonus epilepsies. (jle.com)
Minassian B.A., Striano P., Avanzini G. Progressive myoclonus epilepsy: the gene-empowered era. (jle.com)
[Pranzatelli and Tate, 2001] Pranzatelli M.R., Tate E.D. Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug. (jle.com)
Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. (nih.gov)
PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. (nih.gov)
Nonprogressive myoclonic epilepsies - This group of disorders overall has a more favorable prognosis and includes benign neonatal myoclonic epilepsy, familial myoclonic epilepsy, and autosomal dominant cortical myoclonus and epilepsy, among others. (medscape.com)
The progressive myoclonic epilepsies (PMEs) are a heterogeneous group of seizure disorders characterized by myoclonus and often neurodegeneration. (preventiongenetics.com)
PME4, previously called action myoclonus-renal failure syndrome (AMRF), is a progressive epilepsy disorder in which cognition is preserved (Badhwar et al. (preventiongenetics.com)
Early myoclonic encephalopathy has an erratic focal myoclonus, which can migrate throughout the infant's body. (medscape.com)
Specific syndromes of progressive myoclonic epilepsy with key clinical features include Unverricht-Lundborg disease (Baltic myoclonus), myoclonus epilepsy with ragged red fibers (MERRF), neuronal ceroid lipofuscinoses (Batten disease), and sialidoses (cherry-red spot myoclonus syndrome). (medscape.com)
2011). Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings . (up.pt)
His clinical presentation raised suspicion of a progressive myoclonus epilepsy. (bmj.com)
The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. (elsevierpure.com)
31 years or later onset with family history of early onset dystonia - May be paroxysmal/episodic dystonia - May be associated with myoclonus as in myoclonic dystonia This disease category includes dopa responsive dystonia. (genomicsengland.co.uk)
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. (rutgers.edu)

C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome (LS) and progressive dystonia. (bmj.com)
C levels (36-52% in leucocytes, 97-99% in muscle) were found in patients with progressive myoclonic epilepsy (PME) and dystonia or progressive hypokinetic-rigid syndrome. (bmj.com)
Identification of a distinct epilepsy syndrome may enable more accurate prognostication (see Etiology). (medscape.com)
Progressive spasticity is frequently seen in older children and adolescents with Dravet syndrome, often associated with the development of crouch gait. (medscape.com)
2008). A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome . (up.pt)
Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. (hkmj.org)

Representative diseases include Unverricht-Lundborg disease, Lafora body disease, myoclonic epilepsy with ragged red fibers (MERRF), the neuronal ceroid lipofuscinoses, sialidosis, and dentate-rubral-pallidoluysian atrophy (DRPLA). (medscape.com)

[ 2 ] - This includes early myoclonic encephalopathy (EME) and early infantile epileptic encephalopathy (EIEE). (medscape.com)

These patients typically develop symptoms of myoclonic epilepsy , visual problems, and ataxia in the second or third decade of life. (medscape.com)

Non-Progressive Encephalopathy. (ossweb.com)

Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous but, as a group, may be refractory to treatment. (medscape.com)
Refractory Epilepsy. (ossweb.com)

Dementia follows seizure onset and is progressive. (medscape.com)
Early-onset childhood dentatorubral-pallidoluysian atrophy involved mental retardation, whereas myoclonic epilepsy was the predominant complaint in later-onset childhood version of the disease. (hkmj.org)
The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. (beds.ac.uk)
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al. (beds.ac.uk)
Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)

Dr. McKee's main focus is the treatment of epilepsy, both in the clinic and hospital setting. (uchealth.com)

Because the radiological, electroencephalographic, and electrophysiological findings were non-specific, we suggest that DRPLA gene testing should be performed in any child presenting with a variable combination of myoclonic epilepsy, mental retardation or developmental regression, and ataxochoreo-athetosis. (hkmj.org)

EEG continues to play a central role in diagnosis and management of patients with seizure disorders-in conjunction with the now remarkable variety of other diagnostic techniques developed over the last 30 or so years-because it is a convenient and relatively inexpensive way to demonstrate the physiological manifestations of abnormal cortical excitability that underlie epilepsy. (bmj.com)
Secondly, correlation between different EEG patterns and epilepsy varies, and only IED are associated with seizure disorders at a sufficiently high rate to be of clinical use. (bmj.com)

The overall prognosis associated with myoclonic epilepsy in childhood depends on the underlying etiology. (medscape.com)
Clinical features can aid in the differentiation of myoclonic epilepsies from other forms of epilepsy and paroxysmal movements of childhood (see Clinical). (medscape.com)

Variants in the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). (medlineplus.gov)
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (medlineplus.gov)
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum. (bvsalud.org)
Spinal muscular atrophy (SMA) is a rare genetic condition characterized by progressive muscle weakness and atrophy. (smanewstoday.com)
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. (rutgers.edu)

Abnormalities of background cerebral rhythms, focal slow activity or regional attenuation are much less specific than epileptiform activity, although they can indicate localised structural pathology underlying the seizure disorder, or diffuse cortical dysfunction as in symptomatic generalised epilepsies. (bmj.com)
Hypothalamic-pituitary-adrenocortical axis dysfunction in epilepsy. (uc.edu)

Benabid A.L., Minotti L., Koudsié A. Antiepileptic effect of high-frequency stimulation of the subthalamic nucleus (corpus luysi) in a case of medically intractable epilepsy caused by focal dysplasia: a 30-month follow-up: technical case report. (jle.com)
Intractable Epilepsy. (ossweb.com)

Patients may present with epilepsy or with symptoms of developmental delay Associated with other developmental anomalies like callosal agenesis or Chiari II malformations. (kipdf.com)

The main seizure types are myoclonic or tonic-clonic with frequent nocturnal occurrence. (nih.gov)

It is crucial to recognise that a normal EEG does not exclude epilepsy, as around 10% of patients with epilepsy never show epileptiform discharges. (bmj.com)

Some types of epileptiform phenomena-3 per second spike wave discharge, hypsarrhythmia, and generalised photoparoxysmal response-are strongly correlated with clinical epilepsy, whereas focal sharp waves in centro-temporal or occipital regions have moderate association with clinically active epilepsy. (bmj.com)

Epileptiform activity is specific, but not sensitive, for diagnosis of epilepsy as the cause of a transient loss of consciousness or other paroxysmal event that is clinically likely to be epilepsy. (bmj.com)

Secondly, an abnormal EEG demonstrating IED does not in itself indicate that an individual has a seizure disorder, as IED are seen in a small percentage of normal subjects who never develop epilepsy, and IED may also be found in patients with neurological disorders which are not complicated by epilepsy. (bmj.com)

We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. (pacb.com)

Acid ceramidase (ACDase) -mangel er et spektrum af forstyrrelser, der inkluderer en sjælden lysosomal opbevaringsforstyrrelse kaldet Farber sygdom (FD) og en sjælden epileptisk lidelse kaldet spinal muskelatrofi med progressiv myoklonisk epilepsi (SMA-PME). (biomedicalhouse.com)

This is a group of epilepsies secondary to metabolic and neurodegenerative conditions. (medscape.com)

Dawson 3,4 showed that evoked cortical responses to sensory stimuli were abnormal in patients with myoclonic epilepsy. (jamanetwork.com)

Crest C., Dupont S., Leguern E. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients. (jle.com)
Temporal sampling is also limited, and the relatively short duration of routine interictal EEG recording is one reason why patients with epilepsy may not show interictal epileptiform discharge (IED) in the first EEG study. (bmj.com)
We are hopeful that this will offer benefit to patients with EPM7 where there are currently no effective treatments, and might one day also bring benefits to patients suffering from other forms of myoclonic epilepsy, which we will be looking to investigate in future. (svhealthinvestors.com)
The aim of this study was to investigate the effect of some drugs on the somatonsensory evoked potentials in two patients with progressive myoclonic epilepsy. (jamanetwork.com)
ceramid, ikke identificeret før 1967, da det blev isoleret fra en biopsi af en patients nyre (3). (biomedicalhouse.com)

After diagnosing this rare progressive myoclonic epilepsy in a canine patient in 2001, she links with Dr. Berge Minassian to study the mutation causing the disease. (surrey.ac.uk)
Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy]. (nih.gov)
The clinical course of the disease depends on the associated effects of progressive storage in the organ systems where these substrates are highly concentrated. (medscape.com)

Epilepsy syndromes that are included in the category of SGE are discussed below. (medscape.com)

Table 1 lists the areas in epilepsy diagnosis and management for which interictal and ictal EEG are useful, strongly so in some, but in a more limited way in others. (bmj.com)
These wide ranges can be explained partly by diverse case selection and differences in clinical requirements for diagnosis of epilepsy in population studies of EEG specificity and sensitivity. (bmj.com)

[Uthman and Reichl, 2002] Uthman B.M., Reichl A. Progressive myoclonic epilepsies. (jle.com)

Anatomy4

Diseases24

Chemicals and Drugs12

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Phenomena and Processes4

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Health Care2

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. (1/49)

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level. (2/49)

Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study. (3/49)

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases. (4/49)

Interaction between neuronal intranuclear inclusions and promyelocytic leukemia protein nuclear and coiled bodies in CAG repeat diseases. (5/49)

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. (6/49)

Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (7/49)

Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. (8/49)

No images available that match "myoclonic epilepsies progressive"

Myoclonic Epilepsy, Juvenile

Epilepsies, Myoclonic

Epilepsy

Myoclonic Epilepsies, Progressive

Epilepsy, Generalized

MERRF Syndrome

NAV1.1 Voltage-Gated Sodium Channel

Anticonvulsants

Electroencephalography

Epilepsy, Reflex

Myoclonus

Epilepsy, Absence

Epilepsy, Tonic-Clonic

Myoclonic Cerebellar Dyssynergia

Epilepsy, Temporal Lobe

Seizures

Piracetam

Spasms, Infantile

Valproic Acid

MELAS Syndrome

Seizures, Febrile

RNA, Transfer, Lys

Precipitating Factors

Lafora Disease

Status Epilepticus

Pedigree

Mitochondrial Encephalomyopathies

RNA, Transfer, Leu

Magnetic Resonance Imaging

Video Recording

Age of Onset

Chromosomes, Human, Pair 6

Sodium Channels

Thalamus

Brain

Syndrome

Mutation

Epilepsy, Complex Partial

Neuroimaging

Pentylenetetrazole

Epilepsy, Frontal Lobe

DNA, Mitochondrial

Mutation, Missense

Phenotype

MedlinePlus

Muscular Atrophy, Spinal

Spinal Muscular Atrophies of Childhood

Survival of Motor Neuron 1 Protein

SMN Complex Proteins

Survival of Motor Neuron 2 Protein

Spinal Cord

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. (1/49)

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level. (2/49)

Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study. (3/49)

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases. (4/49)

Interaction between neuronal intranuclear inclusions and promyelocytic leukemia protein nuclear and coiled bodies in CAG repeat diseases. (5/49)

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. (6/49)

Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (7/49)

Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. (8/49)

Spinal muscular atrophy with progressive myoclonic epilepsy - Wikipedia

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