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 )

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