progressive myoclonus epilepsy 7

info · Genetic

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.

Signs and symptoms

Bilateral tonic-clonic seizure
EEG with generalized epileptiform discharges
Myoclonus
Myoclonic seizure
Mental deterioration
Tremor
Cerebellar atrophy
Ataxia

Also known as: EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency