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| Association between SCN1A Gene Polymorphism and Onset of Febrile Seizures |
| PENG Likun, et al |
| Dali Bai Autonomous Prefecture People's Hospital, Yunnan Dali 671000, China |
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Abstract Objective: To analyze the association between gene polymorphism of sodium voltage-gated channel alpha1 subunit (SCN1A) and onset of febrile seizures (FS). Methods: A retrospective analysis was conducted on 121 patients with FS (FS group) and 150 healthy subjects (healthy group) visited the hospital for physical examination during the same period. The gene polymorphisms, genotypes frequencies and alleles frequencies at rs3812718, rs4667869 and rs10497275 loci of SCN1A gene and the association between different genotypes, gene frequency distribution of SCN1A gene polymorphism with clinical characteristics were compared. Results: The genotype sat rs3812718, rs4667869 and rs10497275 loci of SCN1A gene were consistent with Hardy-Weinberg genetic equilibrium law (P>0.05), indicating population representation. There were statistically significant differences in the frequencies of CC, CT and TT genotypes and C/T allele at rs3812718 locus and frequencies of GG, GC and CC genotypes and G/C allele at rs4667869 locus of SCN1A gene (P<0.05). There were no statistical differences in the frequencies of GG, GA and AA genotypes and G/A allele at rs10497275 locus (P>0.05). The proportions of patients with onset age younger than 3 years old, convulsions, clonuses in patients carrying TT genotype at rs3812718 locus of SCN1A gene were significantly higher than those in patients carrying CC+CT genotype (P<0.05). The proportions of patients with onset age younger than 3 years old and, convulsions, clonuses in patients carrying GG genotype at rs4667869 locus were significantly higher than those in patients carrying CC+GC genotype (P<0.05). There were no significant differences in the proportions of convulsion with fever, loss of consciousness and abnormal head imaging symptoms among different genotypes (P>0.05). Conclusion: rs3812718 and rs4667869 loci of SCN1A gene are associated with the clinical characteristics of FS onset, and the T allele at rs3812718 locus and the G allele at rs4667869 locus are susceptible genes.
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2025, Vol. 31 
