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Association Analysis of 2 Subunit of -aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II -polypeptide Gene Mutation in Southern Chinese Children With Febrile Seizures

Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China

Meichun Xu

Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China, wangxiumin1019@ 126.com

Lizhong Du, PhD

Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China

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.

Key Words: gene mutation • familial febrile seizures • single nucleotide polymorphisms • GABA

Journal of Child Neurology, Vol. 22, No. 6, 714-719 (2007)
DOI: 10.1177/0883073807304002


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