Objective To investigate the correlation between sodium channel voltage-gated 2 A(SCN2A)gene polymorphism and the efficacy of antiepileptic drugs(AED)in children with epilepsy.Methods A total of 95 children with epilepsy admitted to Kunming Children's Hospital from September 2019 to March 2023 were retrospectively selected.The children were divided into two groups according to the seizures within 12 months after taking AED,and those without epilepsy were taken as the effective group(n=63).Patients with unchanged or even in-creased seizure frequency were considered as ineffective group(n=32).The genotype of rs17183814 in SCN2A locus was detected by qRT-PCR.The differences ofSCN2A genotype and clinical data were compared among the groups.The correlation between SCN2A genotype and drug ef-ficacy was analyzed using Spearman correlation analysis,and the risk factors of AED resistance was determined using Logistic regression model.Results There were no statistically significant differences in age,sex,weight and age of first attack between the two groups(P＞0.05).There were statistically significant differences in the first seizure type,EEG examination results,seizure frequency and AED types between the two groups(P＜0.05).The proportion of myoclonus,seizure frequency,abnormal EEG results and levetiracetam in the ineffective group were significantly higher than those in the effective group,and the differences were statistically significant(P＜0.05).Compared with the AED response group,the proportion of AA genotype of SCN2A gene locus rs17183814 in the AED resistance group was higher,and the frequency of A gene distribution was higher,the difference was statistically significant(P＜0.05).The AG genotype and GG genotype of SCN2A in the effective group were posi-tively correlated with levetiracetam(P＜0.05).In the ineffective group,A A type was positively correlated with valproic acid(P＜0.05).Logistic regression analysis showed that seizure frequency(OR=8.199,95％CI:1.372-48.985)and SCN2A gene polymorphism(OR=8.199,95％CI:1.372-48.985)were independent factors affecting the efficacy of AED in children with epilepsy(P＜0.05),and the risk of ineffective treatment of A A genotype was significantly higher than that of GG+AG genotype.Conclusion SCN2A gene polymorphism is associat-ed with the efficacy of AED treatment in children with epilepsy.In particular,AA genotype is a risk factor for ineffective treatment.In addition,patients with higher seizure frequency are also prone to ineffective treatment.
关键词
癫痫/儿童/抗癫痫药物疗效/钠通道电压门控2A/基因多态性
Key words
Epilepsy/Child/Efficacy of antiepileptic drug/Sodium channel voltage gating 2A/Gene polymorphism
维普
万方数据