电压依赖性钠通道α2亚基基因相关癫痫伴孤独症谱系障碍一例

Voltage-gated sodium channelα2-subunit gene related epilepsy with autism spectrum disorder:a case report

目的总结电压依赖性钠通道α2亚基(SCN2A)基因相关癫痫的临床特征及治疗。方法分析1例2019年10月22日就诊于河北省儿童医院、诊断为癫痫的患儿的临床表现和视频脑电图、头颅MRI等检查资料,并对患儿家系血液标本进行全外显子基因检测。结果本例患儿为1岁8个月男性幼儿,自幼发育落后,存在孤独症谱系障碍表现,1岁7个月出现癫痫发作,表现为孤立和成串痉挛发作或全面性强直发作,家系全外显子检测提示患儿SCN2A基因存在c.4543C>T杂合变异,父母均为野生型。患儿应用多种抗癫痫药物治疗效果欠佳,最终加用吡仑帕奈治疗后癫痫发作得到控制。结论SCN2A基因的c.4543C>T杂合变异是患儿的致病原因,该变异可以引起癫痫伴孤独症谱系障碍。SCN2A基因突变的位置以及类型与表型有很强的相关性,尽早明确遗传学病因,有助于患儿的精准治疗。

Objective To summarize the clinical features and treatment of voltage-gated sodium channelα2-subunit(SCN2A)gene-related epilepsy.Methods The clinical manifestion,video electroencephalography,head magnetic resonance imaging of a child diagnosed with epilepsy in Hebei Children′s Hospital were analyzed.Additionally,blood samples of the family were tested for the whole exome sequencing.Results The boy aged 20 months,had been developed backward since childhood and accompanied by autism spectrum disorder manifestations.Seizures occurred at 19 months,manifested as isolated and clusters of spasms or generalized tonic seizures.The whole exome sequencing of the family revealed that the proband had c.4543C>T heterozygous mutation in the SCN2A gene,and both parents showed wild type.The effect of multiple anti-epileptic drugs on the children was not good,but the epilepsy was controlled after the final addition of perampane.Conclusions The c.4543C>T heterozygous variant of SCN2A gene is the cause of disease in this child.This variant can cause epilepsy with autism spectrum disorder.The location and type of SCN2A mutations are strongly related with phenotypes,and a clear genetic etiology contributes to accurate treatment of children.