Human genes for progressive myoclonus epilepsy 7
Progressive myoclonus epilepsy 7 [DOID:0111447]
A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1.
Synonyms: progressive myoclonus epilepsy 7, DOID:0111447, EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation ...