Transition to adult life in the monogenic epilepsies
Author:
Affiliation:
1. The Florey Institute; Austin Health and Royal Children's Hospital; University of Melbourne; Melbourne Victoria Australia
2. Centre Saint-Paul-Hospital Henri Gastaut; Marseille France
3. Catholic University; Rome Italy
Funder
National Health and Medical Research Council
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12707/fullpdf
Reference28 articles.
1. Epilepsy and mental retardation limited to females: an under-recognized disorder;Scheffer;Brain,2008
2. Targeted resequencing in epileptic encephalopathies identifies recurrent de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013
3. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability;Derry;Epilepsia,2008
4. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy;Heron;Nat Genet,2012
5. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2;Scheffer;Ann Neurol,1998
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. Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies;Frontiers in Neurology;2022-02-17
2. Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late;Clinical Genetics;2020-09
3. Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults;Epilepsia;2019-12
4. Helping Families Cope with the Severe Stress of Dravet Syndrome;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2016-06
5. Epilepsy: addressing the transition from pediatric to adult care;Adolescent Health, Medicine and Therapeutics;2016-06
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