SCN2A基因突变相关的癫痫研究进展
Research Advances in Epilepsy Related to SCN2A Gene Mutation
DOI: 10.12677/ACREM.2021.92004, PDF,   
作者: 王潇颖, 胡 越：重庆医科大学附属儿童医院神经内科，重庆；国家儿童健康与疾病临床医学研究中心，重庆；儿童发育疾病研究教育部重点实验室，重庆；儿童发育重大疾病国家国际科技合作基地，重庆；儿科学重庆市重点实验室，重庆
关键词: SCN2A基因；癫痫；遗传； SCN2A Gene； Epilepsy； Heredity
摘要: SCN2A (Sodium voltage-gated channel alpha subunit 2)基因编码的神经元电压门控钠通道Nav1.2是中枢神经系统表达的四个钠通道类似物之一，在大脑中分布广泛，参与一系列神经元动作电位的启动和传导。SCN2A基因突变所致的癫痫表型谱广，其基因突变类型和临床表型之间有很强的相关性，既可表现为良性预后的癫痫，也可表现为癫痫性脑病。SCN2A基因突变可为遗传性突变或新生突变，且突变类型多样，其中以错义突变最常见。该文就近年来SCN2A基因突变相关的癫痫研究进展进行阐述，总结其临床特征及遗传学特点，为治疗提供新思路。
Abstract: The neuronal voltage-gated sodium channel Nav1.2 is encoded by SCN2A gene. And it is one of the four sodium channel analogues which expressed in the central nervous system. Nav1.2 is widely distributed in the brain and participates in the initiation and conduction of a series of neuronal action potentials. The epilepsy phenotype caused by SCN2A gene mutations has a wide spectrum, and there is a strong correlation between types of gene mutations and clinical phenotype. And the phenotype can be manifested as epilepsy with benign prognosis or epileptic encephalopathy. The SCN2A gene mutations can be hereditary mutations or de novo mutations, and there are various types of mutations, among which missense mutations are the most common. This article describes the research advance of SCN2A gene mutation related-epilepsy in recent years, summarizes its clinical and genetic characteristics, and provides new ideas for treatment.
文章引用：王潇颖, 胡越. SCN2A基因突变相关的癫痫研究进展[J]. 亚洲急诊医学病例研究, 2021, 9(2): 20-24. https://doi.org/10.12677/ACREM.2021.92004

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