The clinical spectrum of female epilepsy patients withPCDH19mutations in a Chinese population
Author:
Affiliation:
1. Department of Pediatrics; Peking University First Hospital; Beijing China
2. Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research; School of Life Sciences, Peking University; Beijing China
Funder
National Natural Science Foundation of China
Peking University Clinical Cooperation ‘985’ Project
Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12846/fullpdf
Reference23 articles.
1. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment;Dibbens;Nat Genet,2008
2. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet,2009
3. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families;Hynes;J Med Genet,2010
4. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females;Depienne;Hum Mutat,2011
5. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder;Depienne;Hum Mutat,2012
Cited by 30 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. Multicenter retrospective study of patients with PCDH19‐related epilepsy: The first Hungarian cohort;Epileptic Disorders;2024-07-17
2. Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy;Translational Psychiatry;2024-01-27
3. Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review;Molecular Genetics & Genomic Medicine;2023-12-11
4. A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19;Molecular Syndromology;2023-12-06
5. Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China;Developmental Medicine & Child Neurology;2023-11-13
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