SCN1A gene mutation: A a rising cause of human epilepsy syndrome

Muhammad Akram Choohan, Ishtiaq Ahmed, S. K. Syed, M. Naeem
{"title":"SCN1A gene mutation: A a rising cause of human epilepsy syndrome","authors":"Muhammad Akram Choohan, Ishtiaq Ahmed, S. K. Syed, M. Naeem","doi":"10.56770/jcp2022615","DOIUrl":null,"url":null,"abstract":"Epilepsy is found to be very common neurological disorder; it covers a wide range of abnormalities lying within brain. Generation of electrical activity of brain that is action potential and then its proper propagation in central nervous system (CNS) and Peripheral Nervous System (PNS) upto the target site is mandatory for the proper functioning of brain. The human sodium channel (SCN) family plays its critical role in all these neuronal mechanisms. These channels are prone to number of channelopatheis and mutations that are the key point of research and discussion now a day. About 700 mutations of SCN1A gene have been identified. This gene is considered as the commonly mutated gene in human epilepsy. This review is on the structural, functional and pathological aspects of SCN1A gene and its associated channelopathies. This will explore the advances in epilepsy genetics and may help in designing for new therapeutic modalities for treating epileptic patients.","PeriodicalId":15502,"journal":{"name":"Journal of Contemporary Pharmacy Practice","volume":"95 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Contemporary Pharmacy Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.56770/jcp2022615","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Epilepsy is found to be very common neurological disorder; it covers a wide range of abnormalities lying within brain. Generation of electrical activity of brain that is action potential and then its proper propagation in central nervous system (CNS) and Peripheral Nervous System (PNS) upto the target site is mandatory for the proper functioning of brain. The human sodium channel (SCN) family plays its critical role in all these neuronal mechanisms. These channels are prone to number of channelopatheis and mutations that are the key point of research and discussion now a day. About 700 mutations of SCN1A gene have been identified. This gene is considered as the commonly mutated gene in human epilepsy. This review is on the structural, functional and pathological aspects of SCN1A gene and its associated channelopathies. This will explore the advances in epilepsy genetics and may help in designing for new therapeutic modalities for treating epileptic patients.
SCN1A基因突变:A是人类癫痫综合征的上升原因
癫痫是一种非常常见的神经系统疾病;它涵盖了大脑内部的各种异常情况。脑电活动即动作电位的产生及其在中枢神经系统(CNS)和外周神经系统(PNS)向目标部位的正确传播是大脑正常工作的必要条件。人钠通道(SCN)家族在所有这些神经元机制中起着关键作用。这些通道容易发生大量的通道病变和突变,这是目前研究和讨论的重点。目前已发现约700个SCN1A基因突变。该基因被认为是人类癫痫中常见的突变基因。本文就SCN1A基因的结构、功能和病理方面及其相关的通道病变进行综述。这将探索癫痫遗传学的进展,并可能有助于设计治疗癫痫患者的新治疗方式。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
审稿时长
15 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信