SCN1A gain of function in early infantile encephalopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

SCN1A gain of function in early infantile encephalopathy

Published:2019-03-07 Issue:4 Volume:85 Page:514-525
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Berecki Géza¹^ORCID,Bryson Alexander¹,Terhag Jan¹,Maljevic Snezana¹,Gazina Elena V.¹,Hill Sean L.²,Petrou Steven¹³

Affiliation:

1. Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental HealthUniversity of Melbourne Parkville Victoria Australia

2. Blue Brain ProjectSwiss Federal Institute of Technology in Lausanne Geneva Switzerland

3. Department of MedicineRoyal Melbourne Hospital, University of Melbourne Parkville Victoria Australia

Funder

Department of Health, State Government of Victoria

National Health and Medical Research Council

Centre of Excellence for Integrative Brain Function, Australian Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25438

Reference43 articles.

1. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

2. SCN1Amutations and epilepsy

3. Dravet Syndrome: Diagnosis and Long-Term Course

4. Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey

5. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

Cited by 77 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. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes;International Journal of Molecular Sciences;2024-02-01

2. Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy;Translational Neuroscience;2024-01-01

3. Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome;Clinical and Translational Science;2023-12-06

4. GABRA1‐Related Disorders: From Genetic to Functional Pathways;Annals of Neurology;2023-10-20

5. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A;Brain and Development;2023-10

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