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EJM
MCID: JVN005
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Juvenile Myoclonic Epilepsy malady |
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12 drugs, 38 genes, 1 tissue, 397 related diseases, 3 phenotypes, 38 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
Genetics Home Reference: Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 8 and 20, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, or alcohol consumption.17
MalaCards: Juvenile Myoclonic Epilepsy, also known as janz syndrome, is related to generalized epilepsy with febrile seizures plus and childhood absence epilepsy. An important gene associated with Juvenile Myoclonic Epilepsy is EFHC1 (EF-hand domain (C-terminal) containing 1), and among its related pathways are Potassium transporters- inward current and GABA signaling in brain. The drugs trimethadione and divalproex and the compounds pha 543613 hydrochloride and pnu 120596 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are homeostasis/metabolism and nervous system. Disease Ontology: A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.6 NIH Rare Diseases: Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning, especially if they are sleep-deprived. Drinking alcohol and psychological stress may also make these seizures more likely. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.30 Wikipedia: Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic...44 more... OMIM: 254770 |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 33OMIM, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 254770
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for juvenile myoclonic epilepsy Drug clinical trials:Search ClinicalTrials for juvenile myoclonic epilepsy Search NIH Clinical Center for juvenile myoclonic epilepsy Search CenterWatch for juvenile myoclonic epilepsy Inferred drug relations via UMLS/NDF-RT:43 28 anti-epileptic agent [epc], clonazepam, divalproex, divalproex sodium, ethosuximide, mephobarbital, methsuximide, phensuximide, primidone, trimethadione, valproate sodium, valproic acid |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to juvenile myoclonic epilepsy:22Brain
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to juvenile myoclonic epilepsy:25
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Sources: 35PubMed See all sources |
Articles related to juvenile myoclonic epilepsy:(show all 38)
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 38Reactome, 20KEGG, 36QIAGEN See all sources |
Pathways related to juvenile myoclonic epilepsy according to GeneDecks:
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Sources: 42Tocris Bioscience, 9DrugBank, 32Novoseek , 34PharmGKB, 18HMDB See all sources |
Compounds related to juvenile myoclonic epilepsy according to GeneDecks:(show top 50) (show all 54)
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Sources: 12Gene Ontology See all sources |
Cellular components related to juvenile myoclonic epilepsy according to GeneDecks:
Biological processes related to juvenile myoclonic epilepsy according to GeneDecks:
Molecular functions related to juvenile myoclonic epilepsy according to GeneDecks:
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