Term Name: progressive myoclonus epilepsy 7
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
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.
Ontology: Human Disease [DOID:0111447]   ( DOID:0111447 )

Relationships
is a type of: autosomal dominant disease progressive myoclonus epilepsy