The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures

Hancili S., Önal Z. E., Ata P., Karatoprak E. Y., Gürbüz T., Bostanci M., ...More

Pediatric Neurology, vol.50, no.4, pp.353-356, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.1016/j.pediatrneurol.2014.01.002
  • Journal Name: Pediatric Neurology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.353-356
  • Keywords: GABA(A) receptor, febrile seizure, gamma 2 subunit, R43Q mutation
  • Istanbul Medipol University Affiliated: Yes


Background Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. Methods We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the γ2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. Results We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor γ2 subunit was higher in the study group than in the control group (P < 0.01). Conclusions Heterozygous gamma-aminobutyric acid A receptor γ2 subunit (R43Q) mutation may have an effect in the development of febrile seizures. © 2014 Elsevier Inc. All rights reserved.