Models for discovery of targeted therapy in genetic epileptic encephalopathies
Author:
Affiliation:
1. The Florey Institute of Neuroscience and Mental Health; Melbourne Australia
2. University of Melbourne; Melbourne Australia
Funder
National Health and Medical Research Council
Publisher
Wiley
Subject
Cellular and Molecular Neuroscience,Biochemistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jnc.14134/fullpdf
Reference166 articles.
1. Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue;Addis;Sci. Rep.,2017
2. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat. Genet.,2012
3. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene;Baulac;Nat. Genet.,2001
4. Opposing effects on nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures;Ben-Shalom;Biol. Psychiatry,2017
5. A potassium channel mutation in neonatal human epilepsy;Biervert;Science,1998
Cited by 35 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. What are the considerations when initiating treatment for epilepsy in children?;Expert Review of Neurotherapeutics;2023-11-30
2. Biomolecular mechanisms of epileptic seizures and epilepsy: a review;Acta Epileptologica;2023-11-15
3. Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022;Medicine;2023-07-28
4. Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy;Acta Epileptologica;2023-06-28
5. Pharmacological diversity amongst approved and emerging antiseizure medications for the treatment of developmental and epileptic encephalopathies;Therapeutic Advances in Neurological Disorders;2023-01
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