J Korean Child Neurol Soc.  2005 Nov;13(2):144-151.

Single Nucleotide Polymorphisms of GABRG2 in Febrile Seizures and GEFS+

• Cho SM
• Kim YH
• Chung SY
• Lee IG
• Whang KT
• Lee BC
• Lee KH

Abstract

PURPOSE
Febrile seizures are characterized by a heterogenous phenotype segregating as an autosomal dominant trait with incomplete penetrance. Mutations in GABRG2 gene were identified in two families with generalized epilepsy and febrile seizures plus (GEFS+) and with absence epilepsy and febrile seizures(FSs). The present study assessed the role of GABRG2 gene in FSs and GEFS+ of the Korean population.
METHODS
66 FSs, 20 GEFS+ and 94 healthy control subjects were selected throughout a collaborative study of Catholic Child Neurology Research Group. The SNP211037 of GABRG2 was screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. Genotypes and allelic frequencies for GABRG2 gene polymorphism in three groups were compared.
RESULTS
The number of individuals with the GABRG2(SNP211037)-C/C genotype in patients with FSs was significantly greater compared with that in healthy control subjects and the GABRG2(SNP211037)-C allele frequency in patients with FSs was significantly higher than that in healthy control subjects. The odds ratio for developing FSs in individuals with the GABRG2(SNP211037)-CC genotype was 5.96 compard with individuals with the GABRG2(SNP211037)-T/T genotype. In contrast, the GABRG2 (SNP211037) gene in GEFS+ and control groups was not significantly different.
CONCLUSION
Theses data suggest that genomic variations of GABRG2 might be one of the susceptibility factors for FSs in the Korean population.

Keyword

Febrile seizure; GEFS+; GABRG2; Single nucleotide polymorphism

MeSH Terms

Child
DNA
Epilepsy, Absence
Epilepsy, Generalized
Gene Frequency
Genotype
Humans
Neurology
Odds Ratio
Penetrance
Phenotype
Polymorphism, Single Nucleotide*
Seizures, Febrile*
DNA