Effects of SCN2A Gene Polymorphism on Drug Response in Han Chinese Children with Epilepsy

Childhood epilepsy is a prevalent neurological syndrome featuring a complex etiology and a propensity to recur, which significantly affects the growth and development of children. This study was intended to investigate the potential impact of the polymorphisms of sodium voltage-gated channel alpha subunit 2 gene (SCN2A) rs2121371 and rs1864885 on the drug efficacy in the clinical treatment of epilepsy. Polymerase chain reaction was employed to perform polymorphism detection of the rs2121371 and rs1864885 genes of SCN2A in 98 epilepsy patients. Subsequently, following the patient's responses to the drugs, they were classified into the seizure-free group and the epileptic-seizure group. Meanwhile, based on the outcomes of liver injury, the patients were also categorized into the group without liver injury disorders and the group with liver injury disorders. Logistic regression was utilized to analyze the correlation between these two polymorphisms and the drug response. The allele frequencies of the rs2121371 and rs1864885 genotypes of SCN2A exhibited differences between the non-epileptic seizure group and the epileptic seizure group. Among them, the C allele (P = 0.004) and CC genotype (P = 0.013) of rs2121371 were correlated with adverse drug reactions; the G allele (P < 0.001) and AG genotype (P < 0.001) of rs1864885 were associated with adverse drug reactions. Additionally, the polymorphism of rs2121371 was related to liver injury caused by epilepsy drugs, whereas the polymorphism of rs1864885 was not related to such liver injury. The polymorphisms of rs2121371 and rs1864885 of SCN2A might potentially exert an influence on the drug efficacy in the clinical treatment of epilepsy.