| Metadata | |
|---|---|
| ID | DOID:0111691 |
| Name | familial adult myoclonic epilepsy 5 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/23518707 |
| Xrefs | |
| Synonyms |
FAME5 [EXACT] familial cortical myoclonic tremor and epilepsy 5 [EXACT] FCMTE5 [EXACT] |
| Parent Relationships |