Association analysis of gamma2 subunit of gamma-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II alpha-polypeptide gene mutation in southern Chinese children with febrile seizures

J Child Neurol. 2007 Jun;22(6):714-9. doi: 10.1177/0883073807304002.

Abstract

We attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures. Neither mutation was found in our subjects. The single-nucleotide polymorphism rs211014 AA genotype was overrepresented in the febrile-seizures group compared with controls (62.4% vs 29.0%). The single-nucleotide polymorphism rs211014 A allele was higher in the febrile-seizures group (P < .005). Compared with the single-nucleotide polymorphism rs211014 CC genotype, the odds ratio for developing febrile seizures in individuals with the single-nucleotide polymorphism rs211014 AA genotype was 4.05 (P < .005). A new mutation of C-to-T transition was found at nucleotide 81719 of the GABRG2 gene in a 5-year-old boy, suggesting that the above mutations may not be the main disease mutations. The single-nucleotide polymorphism rs211014 A allele may predict susceptibility to febrile seizures.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics
  • Chi-Square Distribution
  • Child
  • Child, Preschool
  • China / epidemiology
  • China / ethnology
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Infant
  • Lysine / genetics
  • Male
  • Methionine / genetics
  • Mutation*
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Receptors, GABA-A / genetics*
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics*
  • Tryptophan / genetics

Substances

  • GABRB2 protein, human
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • Receptors, GABA-A
  • SCN2A protein, human
  • Sodium Channels
  • Tryptophan
  • Arginine
  • Methionine
  • Lysine