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MCID: EPL201
MIFTS: 25
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Epilepsy, Familial Adult Myoclonic, 1
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases
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MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 1:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
childhood onset has been reported adult onset (mean age 37 years) nonprogressive course tremor may be elicited by movement or postural maintenance tremor is aggravated by emotional stress clinically resembles essential tremor, but not responsive to beta-adrenergic blockers anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) genetic heterogeneity (see bafme2, ) HPO:32
epilepsy, familial adult myoclonic, 1:
Onset and clinical course adult onset nonprogressive Inheritance heterogeneous autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases |
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OMIM
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57
Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010).
(601068)
MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 1, also known as cortical myoclonic tremor with epilepsy, familial, 1; fcmte1, is related to epilepsy, familial adult myoclonic, 2 and benign adult familial myoclonic epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 1 is FCMTE1 (Familial Cortical Myoclonic Tremor With Epilepsy 1). The drugs Fenofibrate and Antimetabolites have been mentioned in the context of this disorder. Related phenotypes are intellectual disability and giant somatosensory evoked potentials |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:601068Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 1:32 (show all 9)
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Drugs for Epilepsy, Familial Adult Myoclonic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Search
GEO
for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 1.
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