Analysis of the correlation between febrile seizure and hot-spot polymorphism variation in SCN1A gene in children from Chongming County,Shanghai

Objective times To explore the correlation of febrile seizure(FS) with voltage-gated sodium channel alpha 1 subtype(SCNIA) gene exons 25,26 and3'UTR region in children from Shanghai chongming County.Methods times The genomic DNA in peripheral venous blood was extracted from 96 children with FS(including 32 cases of genetic epilepsy with febrile seizures plus[GEFS+]) and 53 healthy controls.PCR amplification and sequencing analysis were performed for SCNIA gene exons 25,26 and 3'UTR region.Results times No mutation in SCN1 A gene exons E25,E26 was found in both groups.For 3'UTR region,c.310-311 delgt GT variation was found in 1 case of GEFS+,c.589 T G variation in 2 cases of FS,and c.593 TG variation in 6 cases,while no mutation was found in the control group.Reported frequencies of single nucleotide polymorphism(SNP) c.l025TC were 18.2%(the case group) and 24.5%(the control group).The difference between two groups was not statistically significant.Prediction results showed that 114 microRNAs could bind with t