金华地区惊厥性癫痫持续状态患者的临床特征及SCN1A基因筛查分析

Analysis of clinical characteristics and SCN1A gene screening of patients with convulsive status epilepticus in Jinhua area

目的分析金华地区惊厥性癫痫持续状态患者的临床特征,探究其与SCN1A基因突变的相关性。方法选择2015年4月-2021年4月金华地区惊厥性癫痫患者147例作为观察对象,检测SCN1A基因突变,对比不同SCN1A基因分型临床特征。结果147例患儿中SCN1A基因突变阳性48例,突变发生率为32.65%,其中错义突变25例(17.01%),截断突变23例(15.65%)。错义突变中16例患者处于S4~S6区(编码核心区)、9例患儿处于其他编码区(非S4~S6区)。错义突变组惊厥性癫痫患儿的不典型失神发作年龄、肌阵挛发作年龄、局灶、多灶性痫样放电均高于截断突变组(P<0.05)。结论SCN1A基因突变类型和金华地区惊厥性癫痫持续状态患者癫痫发作年龄、肌阵挛发作年龄、丛集样发作率、局灶、多灶性痫样放电等临床特征存在密切相关性。

Objective To analyze the clinical characteristics of patients with convulsive status epilepticus in Jinhua area,and to explore its correlation with SCN1A gene mutations. Methods A total of 147 patients with convulsive epilepsy in Jinhua area from April 2015 to April 2021 were selected as observation objects to detect SCN1A gene mutations and compare the clinical characteristics of different SCN1A genotypes. Results A total of 48 cases of SCN1A gene mutation were positive in 147 children,the mutation rate was 32. 65%,including 25 cases( 17. 01%) missense mutations and 23 cases( 15. 65%) truncation mutations. Among the missense mutations,16 patients were in the S4-S6 region( coding core region),and 9 patients were in other coding regions( non-S4-S6 regions). The age of atypical absence seizures,age of myoclonic seizures,focal and multifocal epileptiform discharges of children with convulsive epilepsy in the missense mutation group were higher than those in the truncated mutation group( P < 0. 05). Conclusion The SCN1A gene mutation type is closely related to the clinical characteristics of patients with convulsive status epilepticus in Jinhua,such as the age of seizures,the age of myoclonic seizures,the rate of cluster-like seizures,focal and multifocal epileptiform discharges.