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GTR Home > Conditions/Phenotypes > Epilepsy, familial adult myoclonic, 3

Epilepsy, familial adult myoclonic, 3

Synonyms
CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FAME3

Summary

Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DOA10, FAME3, FCMTE3, MARCH-VI, MARCH6, RNF176, TEB4, MARCHF6
    Summary: membrane associated ring-CH-type finger 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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