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Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus
A Qi-Ling, WANG Bo, CHEN Guang-Fu, HUANG Jian-Lin, LI Yun, CAO De-Zhi, LIU Rong-Tian
Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (2) : 130-133.
PDF(1032 KB)
PDF(1032 KB)
Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus
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+.
Voltage gated sodium channel &alpha / l-subunit / rs3812718 / Single nucleotide polymorphism / Generalized epilepsy with febrile seizures plus / Child
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