Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference25 articles.
1. Primary episodic ataxias: diagnosis, pathogenesis and treatment;JC Jen;Brain,2007
2. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;DL Browne;Nat Genet,1994
3. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2þ channel gene CACNL1A4;RA Ophoff;Cell,1996
4. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia;A Escayg;Am J Hum Genet,2000
5. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures;JC Jen;Neurology,2005
Cited by 16 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. CDHu40: a novel marker gene set of neuroendocrine prostate cancer (NEPC);2024-03-31
2. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches;Tremor and Other Hyperkinetic Movements;2023
3. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023
4. Exploring the Hereditary Nature of Migraine;Neuropsychiatric Disease and Treatment;2021-04
5. From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing;Frontiers in Neurology;2021-03-02
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