De novo KCNA2 mutations cause hereditary spastic paraplegia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

De novo KCNA2 mutations cause hereditary spastic paraplegia

Published:2017-02 Issue:2 Volume:81 Page:326-328
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Manole Andreea¹²,Männikkö Roope¹²,Hanna Michael G.²,Kullmann Dimitri M.³,Houlden Henry¹²,

Affiliation:

1. Department of Molecular Neuroscience and Neurogenetics Laboratory; UCL Institute of Neurology; London United Kingdom

2. MRC Centre for Neuromuscular Diseases; UCL Institute of Neurology; London United Kingdom

3. Department of Clinical and Experimental Epilepsy; UCL Institute of Neurology; London United Kingdom

Funder

Medical Research Council (MRC UK)

The Muscular Dystrophy Association USA

The HSP Society UK

The Wellcome Trust Synaptopathies strategic award

The NIHR UCL/UCLH Biomedical Research Centre (BRC)

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24866/fullpdf

Reference5 articles.

1. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia;Helbig;Ann Neurol,2016

2. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy;Syrbe;Nat Genet,2015

3. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy;Pena;Clin Genet,2015

4. Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: expansion of the genotypic and phenotypic spectrum;Hundallah;Eur J Paediatr Neurol,2016

5. Genetic and phenotypic characterization of complex hereditary spastic paraplegia;Kara;Brain,2016

Cited by 15 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. Potassium channel‐related epilepsy: Pathogenesis and clinical features;Epilepsia Open;2024-04

2. KCNA2 IgG autoimmunity in neuropsychiatric diseases;Brain, Behavior, and Immunity;2024-03

3. Ataxia and spasticity;Neurogenetics for the Practitioner;2024

4. Ion Channel Genes and Ataxia;Contemporary Clinical Neuroscience;2023

5. The hereditary spastic paraplegias;Handbook of Clinical Neurology;2023

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