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 ...