Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference26 articles.
1. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann;Y Chen;Neurol,2003
2. Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy;JB Peloquin;Epilepsia,2006
3. New variants in the CACNA1H gene identified in childhood absence epilepsy;J Liang;Neurosci Lett,2006
4. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy;Y Jiang;Hum Genet,2012
5. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons;JH Chai;Am J Hum Genet,2003
Cited by 27 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. Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome;Epilepsy & Behavior;2024-02
2. Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants;Journal of Intellectual Disability Research;2023-05-02
3. Identification of novel microRNAs in the embryonic mouse brain using deep sequencing;Molecular and Cellular Biochemistry;2023-04-15
4. Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review;International Journal of Molecular Sciences;2023-02-21
5. Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci;Human Genomics;2022-12-20
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
"全球学者库"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,当前全球学者库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 © 2019-2023 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