Human genes for familial adult myoclonic epilepsy 1
Familial adult myoclonic epilepsy 1 [DOID:0111690]
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.
Synonyms: familial adult myoclonic epilepsy 1, DOID:0111690, hereditary adult myoclonic epilepsy 1, BAFME1, benign adult familial myoclonic epilepsy 1 ...