Association between polymorphism of exon 7-21 C>T in SCN1A and generalized epilepsy with febrile seizures plus patients.

Objective To determine the frequency of polymorphism Exon 7 -21 C T of SCN1A gene in patients with generalized epilepsy with febrile seizures plus (GEFS+)in China(han). Methods A total of 155 Chinese (han) children with GEFS+ and 135 normal control subjects were included in the study. A PCR amplicons including the 7 exon and flanking intronic splice site have been screened by denaturing high performance liquid chromatography (DHPLC). For those with abnormal elution peak,direct sequence analysis was performed. SPSS 11.5 was used to determine the difference between the two groups. Results In normal group,SCN1A Exon 7 -21 CT:CC,CT and TT genotype frequencies were 0.474,0.444 and 0.082,respectively. SCN1A Exon 7 -21 CT C and G Gene frequencies were 0.696,0.304,respectively; while in GEFS+ group,SCN1A Exon 7 -21 CT:CC,CT and TT genotype frequencies were 0.490,0.439 and 0.071,respectively. SCN1A Exon 7 -21 CT C and G Gene frequencies were 0.710 and 0.290,respectively. The results showed that genotypes and allelic frequencies for the SCN1A gene polymorphisms in both groups were not significantly different. Conclusion Our study suggests that the SCN1A single nucleotide polymorphism(SNP) Exon 7 -21 CT might not be one of the susceptibility factors for GEFS+.