DISEASES

Disease-gene associations mined from literature

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 CNTN2 on chromosome 1q32.1.

Synonyms:  familial adult myoclonic epilepsy 5,  DOID:0111691,  hereditary adult myoclonic epilepsy 5,  FAME5,  FCMTE5 ...