familial adult myoclonic epilepsy 5 (DOID:0111691)
Alliance: disease page
Synonyms: FAME5; familial cortical myoclonic tremor and epilepsy 5; FCMTE5
Alt IDs: OMIM:615400
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.