title: The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.
abstract: 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.
authors.affiliation: Pediatric Endocrinology Clinic, Göztepe Education and Research Hospital, Medeniyet University, Istanbul, Turkey. Electronic address: sunahancili@gmail.com.
authors.forename: Suna
authors.initials: S
authors.lastname: Hancili
authors.affiliation: Department of Pediatrics, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
authors.forename: Zehra Esra
authors.initials: ZE
authors.lastname: Önal
authors.affiliation: Departments of Genetics and Medical Genetics, Faculty of Medicine, Pendik Training and Research Hospital, Marmara University, Istanbul, Turkey.
authors.forename: Pınar
authors.initials: P
authors.lastname: Ata
authors.affiliation: Pediatric Neurology Clinic, Göztepe Education and Research Hospital, Medeniyet University, Istanbul, Turkey.
authors.forename: Elif Yüksel
authors.initials: EY
authors.lastname: Karatoprak
authors.affiliation: Department of Pediatrics, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
authors.forename: Tamay
authors.initials: T
authors.lastname: Gürbüz
authors.affiliation: Department of Pediatrics, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
authors.forename: Muharrem
authors.initials: M
authors.lastname: Bostancı
authors.affiliation: Department of Pediatrics, Medipol University, Istanbul, Turkey.
authors.forename: Yakup
authors.initials: Y
authors.lastname: Paçal
authors.affiliation: Department of Pediatrics, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
authors.forename: Çağatay
authors.initials: Ç
authors.lastname: Nuhoğlu
authors.affiliation: Department of Pediatrics, Medipol University, Istanbul, Turkey.
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Ceran
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011446:Prospective Studies; D011963:Receptors, GABA-A / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*
chemical_list: C546279:GABRG2 protein, human; D011963:Receptors, GABA-A
keywords: GABA(A) receptor; R43Q mutation; febrile seizure; γ2 subunit