Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects

Lancet Neurol. 2005 Apr;4(4):239-48. doi: 10.1016/S1474-4422(05)70043-0.

Abstract

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. Recent advances in molecular genetics have helped achieve better understanding of the different disorders that cause PME. We review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology
  • Child
  • Humans
  • Lafora Disease / complications
  • Lafora Disease / genetics
  • Lafora Disease / therapy
  • MERRF Syndrome / complications
  • MERRF Syndrome / genetics
  • MERRF Syndrome / therapy
  • Mucolipidoses / complications
  • Mucolipidoses / genetics
  • Mucolipidoses / therapy
  • Muscle, Skeletal / pathology
  • Myoclonic Epilepsies, Progressive / complications
  • Myoclonic Epilepsies, Progressive / etiology*
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonic Epilepsies, Progressive / therapy*
  • Neuronal Ceroid-Lipofuscinoses / complications
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / therapy
  • Unverricht-Lundborg Syndrome / complications
  • Unverricht-Lundborg Syndrome / genetics
  • Unverricht-Lundborg Syndrome / therapy