A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

Published:2014-09 Issue: Volume:69 Page:117-123
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Estacion Mark,O'Brien Janelle E.,Conravey Allison,Hammer Michael F.,Waxman Stephen G.,Dib-Hajj Sulayman D.,Meisler Miriam H.

Funder

NIH

Rehabilitation Research and Development Service and Medical Research Service, Department of Veterans Affairs

Publisher

Elsevier BV

Subject

Neurology

Reference48 articles.

1. Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis;Blumenfeld;Epilepsia,2009

2. Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon;Boiko;Neuron,2001

3. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’;Burgess;Nat. Genet.,1995

4. Sodium channel Nav1.6 is localized at nodes of Ranvier, dendrites, and synapses;Caldwell;Proc. Natl. Acad. Sci. U. S. A.,2000

5. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat. Genet.,2013

Cited by 96 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. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06

2. Global modified‐Delphi consensus on comorbidities and prognosis of SCN8A‐related epilepsy and/or neurodevelopmental disorders;Epilepsia;2024-05-27

3. Parvalbumin Interneuron Impairment Leads to Synaptic Transmission Deficits and Seizures inSCN8AEpileptic Encephalopathy;2024-02-10

4. Complex biophysical changes and reduced neuronal firing in anSCN8Avariant associated with developmental delay and epilepsy;2023-12-05

5. SCN8A epileptic encephalopathy: literature review and own observation;L.O. Badalyan Neurological Journal;2023-10-13

同舟云学术

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