Human genes for familial adult myoclonic epilepsy 2
Familial adult myoclonic epilepsy 2 [DOID:0111692]
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.
Synonyms: familial adult myoclonic epilepsy 2, DOID:0111692, hereditary adult myoclonic epilepsy 2, ADCME, autosomal dominant cortical myoclonus and epilepsy ...