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

YE Gui-yun, CHEN Liu, DAI Hong, LIU Xiao-qing   

  1. Department of Paediatrics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200082, China
  • Online:2016-11-28 Published:2016-11-29


Objective · To explore the correlation of febrile seizure (FS) with voltage-gated sodium channel alpha 1 subtype (SCN1A) gene exons 25, 26 and 3’UTR region in children from Shanghai chongming County. Methods · 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 SCN1A gene exons 25, 26 and 3’UTR region. Results · No mutation in SCN1A gene exons E25, E26 was found in both groups. For 3’UTR region, c.310311 delgt GT variation was found in 1 case of GEFS+, c.589 T> G variation in 2 cases of FS, and c.593 T>G variation in 6 cases, while no mutation was found in the control group. Reported frequencies of single nucleotide polymorphism (SNP) c.1025T>C 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 the 3’UTR region of SCN1A gene. C.310-311 delGT was not located in the sequence where miRNAs bound with 3’UTR region of SCN1A gene, while c. 589 T>G and c.593 T > G variations were located in this sequence. Conclusion · No mutation was found in SCN1Agene exons E25, E26. The c. 310-311delGT, c.589 T > G, and c. 593 T > G variations were found in 3’UTR region. There is no obvious correlation between SNPc.1025T>C and FS.

Key words: febrile seizure, SCN1A, genetic epilepsy with febrile seizures plus, single nucleotide polymorphisms, 3’UTR