Progressive myoclonic epilepsy type 7

What is Progressive myoclonic epilepsy type 7?

A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

Other condition names

  • 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

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.