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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-08-2020
Symbol EPM7
Location 11p15.1
Name epilepsy, progressive myoclonic 7
Corresponding gene KCNC1
Main clinical features
  • after normal development in early childhood, onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life
  • patients may have cognitive decline, and most patients becoming wheelchair-bound
  • also several form, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation (PMID: 27629860))
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease