PCDH19-related epilepsy in two mosaic male patients
Author:
Affiliation:
1. Department of Neurosciences; Unit of Molecular Medicine; Bambino Gesù Children's Hospital; IRCCS; Rome Italy
2. Department of Neurosciences; Neurology Unit; Bambino Gesù Children's Hospital; IRCCS; Rome Italy
Funder
Together for the research on PCDH19
Banca Nazionale del Lavoro no profit organization
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13295/fullpdf
Reference9 articles.
1. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment;Dibbens;Nat Genet,2008
2. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations;Specchio;Epilepsia,2011
3. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy;Marini;Epilepsia,2012
4. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet,2009
5. Epilepsy and mental retardation limited to females: an under-recognized disorder;Scheffer;Brain,2008
Cited by 55 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. Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy;Translational Psychiatry;2024-01-27
2. Variable clinic-EEG trajectories in male patients with <i>PCDH19</i> clustering epilepsy;Epilepsy and paroxysmal conditions;2023-09-27
3. Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression;Molecular Psychiatry;2023-03-30
4. PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency;Frontiers in Neurology;2022-11-03
5. Modifying PCDH19 levels affects cortical interneuron migration;Frontiers in Neuroscience;2022-10-25
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