DISEASES

Disease-gene associations mined from literature

Human genes for familial adult myoclonic epilepsy 3

Familial adult myoclonic epilepsy 3 [DOID:0111695]

A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2.

Synonyms:  familial adult myoclonic epilepsy 3,  DOID:0111695,  hereditary adult myoclonic epilepsy 3,  FAME3,  familial cortical myoclonic tremor and epilepsy 3 ...