SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Physiology,General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s12264-019-00413-5.pdf
Reference33 articles.
1. Cooper DC, Chung S, Spruston N. Output-mode transitions are controlled by prolonged inactivation of sodium channels in pyramidal neurons of subiculum. PLoS Biol 2005, 3: e175.
2. Vreugdenhil M, Hoogland G, van Veelen CW, Wadman WJ. Persistent sodium current in subicular neurons isolated from patients with temporal lobe epilepsy. Eur J Neurosci 2004, 19: 2769–2778.
3. Banerjee J, Fischer CC, Wedegaertner PB. The amino acid motif L/IIxxFE defines a novel actin-binding sequence in PDZ-RhoGEF. Biochemistry 2009, 48: 8032–8043.
4. Blumenfeld H, Lampert A, Klein JP, Mission J, Chen MC, Rivera M, et al. Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis. Epilepsia 2009, 50: 44–55.
5. Hargus NJ, Merrick EC, Nigam A, Kalmar CL, Baheti AR, Bertram EH, 3rd, et al. Temporal lobe epilepsy induces intrinsic alterations in Na channel gating in layer II medial entorhinal cortex neurons. Neurobiol Dis 2011, 41: 361–376.
Cited by 27 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. Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in the RBFOX1 locus;Science Advances;2024-06-28
2. The Genetic Facets of Dravet Syndrome: Recent Insights;Annals of Child Neurology;2024-04-01
3. The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations;2024-03-18
4. Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes;2024-01-02
5. Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients;Frontiers in Neurology;2023-12-18
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