THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy

Epilepsy Res. 2006 Oct;71(2-3):233-6. doi: 10.1016/j.eplepsyres.2006.06.016. Epub 2006 Aug 17.

Abstract

A transgenic mouse model carrying a mutation in the Scn2a gene showed chronic focal seizures associated with extensive cell loss and gliosis in the hippocampus, a similar phenotype found in familial mesial temporal lobe epilepsy (FMTLE). Our objective was to test whether the human homolog of the Scn2a gene is responsible for hippocampal abnormalities in FMTLE by linkage analysis. We conclusively ruled out the SCN2A gene as candidate in FMTLE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epilepsy, Temporal Lobe / genetics*
  • Genetic Linkage
  • Humans
  • Microsatellite Repeats
  • Mutation
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Sclerosis
  • Sodium Channels / genetics*
  • Temporal Lobe / pathology*

Substances

  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN2A protein, human
  • Scn2a protein, mouse
  • Sodium Channels