Abstract：Objective To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.Methods The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.Results As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P < 0.05). There was also a significant difference in the frequency of T allele between the two groups (P < 0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype, TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC:OR=4.05, 95% CI:1.04-15.69; TT/CC:OR=30.60, 95% CI:6.46-144.85; T/C:OR=4.64, 95% CI:2.54-8.48).Conclusions SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS+.
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