familial adult myoclonic epilepsy 5
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
familial adult myoclonic epilepsy 5
- FAME5
- FCMTE5
- familial cortical myoclonic tremor and epilepsy 5
disease_ontology
DOID:0111691