%0 Journal Article
%T SCN2A基因突变相关的癫痫研究进展<br> Research Advances in Epilepsy Related to SCN2A Gene Mutation
%A 王潇颖
%A 胡越
%J Asian Case Reports in Emergency Medicine
%P 20-24
%@ 2328-0395
%D 2021
%I Hans Publishing
%R 10.12677/ACREM.2021.92004
%X <div style=\"text-align:justify;\">
	<span style=\"font-size:14px;\">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。<br />
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.</span> 
</div>
%K SCN2A基因，癫痫，遗传<br> SCN2A Gene
%K Epilepsy
%K Heredity
%U http://www.hanspub.org/journal/PaperInformation.aspx?PaperID=42369