Term Name: | familial adult myoclonic epilepsy 5 |
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Synonyms: | FAME5, familial cortical myoclonic tremor and epilepsy 5, FCMTE5 |
Definition: | A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. |
Ontology: | Human Disease [DOID:0111691] ( DOID:0111691 ) |