Abstract:

Febrile seizure (FS) has a genetic background. The purpose of this study is to search aquaporin-4 (AQP4) gene polymorphisms in children with FS and to explore their effect on the clinical features of FS. This prospective multicenter, case-control included 122 patients with febrile seizure and matched with age, sex 136 healthy control children. A real-time hybridization method was used to analyze and detect the rs1058424 (A/T) and rs3763043 (C/T) single-nucleotide polymorphisms (SNPs).  In patient group, the frequencies of rs3763043 (A/T) genotypes AA, AT and TT   were 48.4%, 42.6%, and 9% respectively, compared with 44,9%, 46,3% and 8,8% respectively, in control group. The results showed that the frequencies of rs1058424 (C/T) genotypes CC, CT, and TT 61,5%, 34,4% and 4,1% respectively in children with febrile seizures, compared 64%, 29,4% and 6,6% respectively in controls (p >0.05). The majority of children experienced simple type FS and their first FS. The statistical analysis showed that wild-type genotype was more common in children with simple FS. There was no statistically significant effect of the SNPs on the features of FS, such as family history, number of seizure or duration. The data obtained from molecular analysis show a lack of association between the rs1058424 (A/T) and rs3763043 (C/T) SNPs and FS in children. This is the first research conducted to examine the relationship between AQP4 and FS. 

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