Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference23 articles.
1. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes;Scheffer;Brain,1997
2. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome;Singh;Ann. Neurol.,1999
3. Les épilepsies graves de l'enfant;Dravet;La Vie Médicale,1978
4. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?;Singh;Epilepsia,2001
5. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2;Escayg;Nat. Genet.,2000
Cited by 195 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. Unraveling Dravet Syndrome: Exploring the complex effects of sodium channel mutations on neuronal networks;Science Progress;2024-01
2. An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus;Frontiers in Neurology;2023-07-27
3. Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type;Frontiers in Neurology;2023-05-24
4. Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing;Neurology and Clinical Neuroscience;2023-02-06
5. Loss or Gain of Function? Effects of Ion Channel Mutations on Neuronal Firing Depend on the Cell Type;2023-01-17
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