| Term Name: | familial adult myoclonic epilepsy 1 |
|---|---|
| Synonyms: | BAFME1, benign adult familial myoclonic epilepsy 1, FAME1, familial cortical myoclonic tremor and epilepsy 1, FCMTE1 |
| Definition: | A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. |
| Ontology: | Human Disease [DOID:0111690] ( DOID:0111690 ) |