The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

Epilepsy Res. 2001 Dec;47(3):243-6. doi: 10.1016/s0920-1211(01)00312-6.


We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Epilepsy, Generalized / genetics*
  • Female
  • Gene Frequency
  • Genetic Variation*
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Reference Values
  • Sodium Channels / genetics*


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