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FAME1
MCID: EPL201
MIFTS: 32
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Epilepsy, Familial Adult Myoclonic, 1 (FAME1)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 1:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
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) some patients may have a homozygous mutation, which is associated with a more severe phenotype with earlier onset high frequency in the chinese and japanese populations HPO:31
epilepsy, familial adult myoclonic, 1:
Inheritance autosomal dominant inheritance Onset and clinical course adult onset nonprogressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases |
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UniProtKB/Swiss-Prot :
73
Epilepsy, familial adult myoclonic, 1: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant.
MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 1, also known as benign adult familial myoclonic epilepsy 1, is related to epilepsy, familial adult myoclonic, 3 and familial adult myoclonic epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 1 is SAMD12 (Sterile Alpha Motif Domain Containing 12). Related phenotypes are intellectual disability and giant somatosensory evoked potentials Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12. OMIM® : 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). FAME1 tends to occur in patients of Japanese or Han Chinese descent (summary by Cen et al., 2018). (601068) (Updated 05-Mar-2021) |
Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 1:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:601068 (Updated 05-Mar-2021) |
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Articles related to Epilepsy, Familial Adult Myoclonic, 1:(show all 16)
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Genes related to Epilepsy, Familial Adult Myoclonic, 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 1:6
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Search
GEO
for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 1.
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Biological processes related to Epilepsy, Familial Adult Myoclonic, 1 according to GeneCards Suite gene sharing:
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