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MCID: EPL107
MIFTS: 19
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Epilepsy, Familial Adult Myoclonic, 4
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases
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MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 4:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
young-adult onset onset of tremor usually before onset of seizures nonprogressive course anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) HPO:32
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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MalaCards based summary
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Epilepsy, Familial Adult Myoclonic, 4, also known as cortical myoclonic tremor with epilepsy, familial, 4; fcmte4, is related to benign adult familial myoclonic epilepsy. An important gene associated with Epilepsy, Familial Adult Myoclonic, 4 is FAME4 (Epilepsy, Familial Adult Myoclonic, 4). Related phenotypes are seizures and enhancement of the c-reflex
Description from OMIM:
615127
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Diseases in the Epilepsy, Myoclonic Juvenile family:Diseases related to Epilepsy, Familial Adult Myoclonic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615127Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 4:32
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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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Search
GEO
for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 4.
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