Human genes for familial adult myoclonic epilepsy 5
Familial adult myoclonic epilepsy 5 [DOID:0111691]
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.
Synonyms: familial adult myoclonic epilepsy 5, DOID:0111691, hereditary adult myoclonic epilepsy 5, FAME5, FCMTE5 ...