Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference28 articles.
1. NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families;Al Shehhi;Eur. J. Med. Genet.,2018
2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat. Genet.,2013
3. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures;Carvill;Am. J. Hum. Genet.,2015
4. Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigations;Doose;Neuropediatrics,1970
5. SCN1A mutation analysis is myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures;Ebach;Neuropediatrics,2005
Cited by 18 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. Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy;Epilepsia;2023-12-22
2. Genetic mechanisms in generalized epilepsies;Acta Epileptologica;2023-03-10
3. Epilepsy syndromes: the 2022 ILAE definition and classification;Epilepsy and paroxysmal conditions;2022-07-27
4. Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility;Human Molecular Genetics;2022-05-25
5. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions;Epilepsia;2022-05-03
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