Gene defects in progressive myoclonus epilepsy

José M. Serratosa, Berge A. Minassian, Subramaniam Ganesh

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).

Original languageEnglish (US)
Pages (from-to)75
Number of pages1
JournalEpilepsia
Volume51
Issue numberSUPPL. 5
DOIs
StatePublished - Dec 2010

Keywords

  • Animal models
  • DRPLA
  • Lafora
  • Mitochondria
  • Molecular diagnosis
  • Neurodegeneration
  • Respiratory chain
  • Seizures

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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