Term Name: | familial adult myoclonic epilepsy 1 |
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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 ) |