| Term Name: | familial adult myoclonic epilepsy 5 |
|---|---|
| Synonyms: | early-onset epilepsy 5 with or without developmental delay, 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 ) |