Genetics: Single Gene Mutations in Inherited and Sporadic Epilepsy

Jennifer A Kearney*, M. Meisler

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

The past decade was a period of dramatic progress in our understanding of the molecular basis of seizure disorders. This progress was based on advances in human genetics that made it possible, for the first time, to identify specific genes responsible for nonsyndromic inherited epilepsy. Some of these genes encode components of neuronal signaling pathways, including sodium, potassium and chloride channels, GABA receptors, and nicotinic acetylcholine receptors. Three epilepsy genes without a well-defined role in neuronal transmission were also identified: . LGI1, . MASS1, and . EHFC1. In addition to their role in rare, monogenic inherited epilepsies, these genes also provide clues regarding the likely etiology of common, polygenic epilepsy disorders.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Basic Epilepsy Research
PublisherElsevier Inc
Pages369-374
Number of pages6
ISBN (Print)9780123739612
DOIs
StatePublished - Jan 1 2009

Keywords

  • Channelome
  • GEFS+
  • Potassium channel
  • SMEI
  • Sodium channel
  • Vaccination

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

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    Kearney, J. A., & Meisler, M. (2009). Genetics: Single Gene Mutations in Inherited and Sporadic Epilepsy. In Encyclopedia of Basic Epilepsy Research (pp. 369-374). Elsevier Inc. https://doi.org/10.1016/B978-012373961-2.00127-2