DISEASES

Disease-gene associations mined from literature

Human genes for familial adult myoclonic epilepsy 7

Familial adult myoclonic epilepsy 7 [DOID:0111694]

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1.

Synonyms:  familial adult myoclonic epilepsy 7,  DOID:0111694,  hereditary adult myoclonic epilepsy 7,  BAFME7,  FAME7 ...