familial adult myoclonic epilepsy 2 (DOID:0111692)
Alliance: disease page
Synonyms: ADCME; autosomal dominant cortical myoclonus and epilepsy; BAFME2; benign adult familial myoclonic epilepsy 2; FAME2; familial cortical myoclonic tremor and epilepsy 2; FCMTE2
Alt IDs: OMIM:607876
Definition: A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.