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Association Analysis of γ2 Subunit of γ-aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II α-polypeptide Gene Mutation in Southern Chinese Children With Febrile Seizures

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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.
Title: Association Analysis of γ2 Subunit of γ-aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II α-polypeptide Gene Mutation in Southern Chinese Children With Febrile Seizures
Description:
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.

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