progressive myoclonus epilepsy 7 (DOID:0111447)
Alliance: disease page
Synonyms: EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7
Alt IDs: OMIM:616187, NCI:C142804, ORDO:435438, UMLS_CUI:C4015420
Definition: 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 the KCNC1 gene on chromosome 11p15.1.