Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2009.02189.x/fullpdf
Reference8 articles.
1. New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus;Beauvais;Eur Neurol,2004
2. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy;Chioza;Neurology,2001
3. Masking epilepsy by combining two epilepsy genes;Glasscock;Nat Neurosci,2007
4. Stepwise developmental regression associated with novel CACNA1A mutation;Guerin;Pediatr Neurol,2008
5. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel;Jouvenceau;Lancet,2001
Cited by 43 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. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28
2. Using team-based precision medicine to advance understanding of rare genetic brain disorders;Journal of Neurodevelopmental Disorders;2024-03-15
3. Cytogenomic epileptology;Molecular Cytogenetics;2023-01-05
4. Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders;Molecular Psychiatry;2021-06-14
5. Calcium Channels Genes and Their Epilepsy Phenotypes;Journal of Pediatric Neurology;2021-05-21
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