Copy number variation in genetic epilepsy with febrile seizures plus
Author:
Funder
Research Institute of the McGill University Health Centre
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference37 articles.
1. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes;Scheffer;Brain,1997
2. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B;Wallace;Nat. Genet.,1998
3. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome;Singh;Ann. Neurol.,1999
4. Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family;Lerche;Neurology,2001
5. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B;Wallace;Neurology,2002
Cited by 6 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. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals;Nature Communications;2023-07-20
2. Microdeletions and microduplications linked to severe congenital disorders in infertile men;Scientific Reports;2023-01-11
3. Mechanism of the promotion of GEFS+ by the STAT3-mediated expression of interleukin-6;Translational Pediatrics;2022-09
4. Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study;Epilepsy & Behavior;2022-04
5. Genetic Testing in Pediatric Epilepsy;Indian Journal of Pediatrics;2020-10-22
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