Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2010.02640.x/fullpdf
Reference92 articles.
1. A sodium channel mutation causing epilepsy in man exhibits defects in fast inactivation and activation in vitro;Alekov;J Physiol (Lond),2000
2. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man;Alekov;Eur J Neurosci,2001
3. An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability;Barela;J Neurosci,2006
4. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene;Baulac;Nat Genet,2001
5. Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development;Beckh;EMBO J,1989
Cited by 340 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity;Gene;2025-01
2. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment;Brain Research;2024-11
3. Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male;Cureus;2024-07-09
4. Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population;Journal of Human Genetics;2024-06-17
5. Parvalbumin Interneuron Dysfunction in Neurological Disorders: Focus on Epilepsy and Alzheimer’s Disease;International Journal of Molecular Sciences;2024-05-19
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3