The phenotypic spectrum of SCN2A-related epilepsy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference31 articles.
1. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels;Catterall;Neuron,2000
2. Comparative distribution of voltage-gated sodium channel proteins in human brain;Whitaker;Mol. Brain Res.,2001
3. Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation;Hu;Nat. Neurosci.,2009
4. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders;Wolff;Brain,2017
5. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat. Genet.,2013
Cited by 63 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. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set;Genome Medicine;2023-11-30
2. Targeted suppression of mTORC2 reduces seizures across models of epilepsy;Nature Communications;2023-11-14
3. Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021;Clinical Neurology and Neurosurgery;2023-11
4. Phenotypic features of epilepsy due to sodium channelopathies – A single center experience from India;Journal of Neurosciences in Rural Practice;2023-10-28
5. Contemplating syndromic autism;Genetics in Medicine;2023-10
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