Term Name: familial adult myoclonic epilepsy 5
Synonyms: FAME5, familial cortical myoclonic tremor and epilepsy 5, FCMTE5
Definition: 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.
Ontology: Human Disease [DOID:0111691]   ( DOID:0111691 )

Relationships
is a type of: autosomal recessive disease familial adult myoclonic epilepsy