Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients
Author:
Affiliation:
1. Department of PediatricsSecond Affiliated Hospital, Zhejiang University School of Medicine Hangzhou China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13441
Reference33 articles.
1. Prevalence and incidence of epilepsy
2. Diagnostic value and prognostic evaluation of dynamic video-electroencephalogram monitoring in children with epilepsy
3. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
4. Advancing epilepsy genetics in the genomic era
5. Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
Cited by 45 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. GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases;Journal of Child Neurology;2024-09-03
2. Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis;Molecular Syndromology;2024-08-29
3. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12
4. Refractory and super-refractory status epilepticus in children and adolescents: A population-based study;Seizure: European Journal of Epilepsy;2024-08
5. Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience;International Journal of Developmental Neuroscience;2024-07-10
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