Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy

Epileptic Disord. 2008 Mar;10(1):13-8. doi: 10.1684/epd.2008.0170.

Abstract

Purpose: Evaluation of the loci 2q36, 3q26, 5q34 and 14q23 in a German family with autosomal dominant idiopathic generalized epilepsy (IGE).

Methods: A linkage analysis was performed including 10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.

Results: Suggestive linkage for IGE was found on 2q36-37 at D2S2308 and D2S2193. No mutations were identified in the coding or 5'-non-coding regions of the exons of candidate gene KCNJ13.

Conclusions: Our results corroborate former linkage findings on 2q36-2q37 and warrant further investigation of additional candidate genes within this chromosomal area in IGE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • DNA / genetics
  • Electroencephalography
  • Epilepsy, Generalized / genetics*
  • Epilepsy, Generalized / pathology*
  • Female
  • Genetic Linkage / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Mutation / physiology
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sodium Channels / genetics

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels
  • DNA