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FAME4
MCID: EPL107
MIFTS: 24
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Epilepsy, Familial Adult Myoclonic, 4 (FAME4)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 4:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
nonprogressive course young-adult onset onset of tremor usually before onset of seizures anticonvulsants are effective one family of thai origin has been reported (last curated november 2019) HPO:31
epilepsy, familial adult myoclonic, 4:
Inheritance autosomal dominant inheritance Onset and clinical course nonprogressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases |
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UniProtKB/Swiss-Prot :
73
Epilepsy, familial adult myoclonic, 4: 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. FAME4 inheritance is autosomal dominant.
MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 4, also known as fcmte4, is related to epilepsy, familial adult myoclonic, 1 and epilepsy, familial adult myoclonic, 3. An important gene associated with Epilepsy, Familial Adult Myoclonic, 4 is YEATS2 (YEATS Domain Containing 2). Related phenotypes are myoclonus and tremor Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in heterozygous mutation in YEATS2 on chromosome 3q27.1. |
Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 4:31 (show all 6)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615127 |
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Articles related to Epilepsy, Familial Adult Myoclonic, 4:
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Genes related to Epilepsy, Familial Adult Myoclonic, 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 4:6
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Search
GEO
for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 4.
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