Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference56 articles.
1. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis;Barbieri;J. Hum. Genet.,2007
2. Interstitial deletion 2q24.3: case report with high resolution banding;Bernar;J. Med. Genet.,1985
3. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus;Bijlsma;Prenat. Diagn.,2005
4. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review;Boles;Am. J. Med. Genet.,1995
5. Interstitial deletion 2q31 leads to q33;Buchanan;Am. J. Med. Genet.,1983
Cited by 42 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. Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease;Genes;2022-06-29
2. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review;Frontiers in Pharmacology;2020-08-18
3. Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder;Translational Psychiatry;2020-07-05
4. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application;Developmental Medicine & Child Neurology;2020-03-30
5. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice;Epilepsia;2020-03
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