摘要
SCN2A(sodium channel,voltage-gated,typeⅡ,alpha)基因编码的神经元电压门控钠通道Na V1.2是中枢神经系统表达的四个钠通道类似物之一,参与一系列神经元动作电位的启动和传导。SCN2A基因的功能障碍与多种神经发育障碍性疾病相关,被认为是婴儿期癫痫、孤独症谱系障碍和智力障碍的重要原因之一,其基因突变类型和临床表型之间有很强的相关性,通过改变其编码的钠通道功能可以缓解癫痫发作。该文就近年来对SCN2A基因介导的癫痫的相关研究进行阐述,并总结其临床特征,为治疗提供了新思路。
SCN2A(sodium channel,voltage-gated,typeⅡ,alpha)gene encodes neuronal voltage-gated sodium channel NaV1.2,one of the four sodium channel analogues expressed in the central nervous system,which participates in the initiation and conduction of a series of neuronal action potentials.The dysfunction of SCN2A gene is associated with a variety of neurodevelopmental disorders,and has been confirmed to be one of the main causes of epilepsy,autism spectrum disorder and mental retardation in infants.There is a strong correlation between the type of gene mutations and clinical phenotypes.The clinical symptoms of seizures can be improved by activating the function of sodium channels.This paper describes the related research on SCN2A gene-mediated epilepsy in recent years,and summarizes its clinical characteristics,which provides a new idea for treatment.
作者
王安琪(综述)
陈育才(审校)
Wang Anqi;Chen Yucai(Department of Neurology,Children′s Hospital of Shanghai,Shanghai Jiao Tong University,Shanghai 200062,China)
出处
《国际儿科学杂志》
2020年第7期481-484,共4页
International Journal of Pediatrics
