The Molecular Biology of Genetic-Based Epilepsies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12035-013-8523-6.pdf
Reference151 articles.
1. Steinlein OK (2004) Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci 5:400–408
2. Tian M, Macdonald RL (2012) The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated gamma2 subunit. J Neurosci 32:5937–5952
3. Michelucci R, Pasini E, Riguzzi P, Volpi L, Dazzo E, Nobile C (2012) Genetics of epilepsy and relevance to current practice. Curr Neurol Neurosci Rep 12:445–455
4. Steinlein OK (2004) Genes and mutations in human idiopathic epilepsy. Brain Dev 26:213–218
5. Meisler MH, O'Brien JE, Sharkey LM (2010) Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 588:1841–1848
Cited by 18 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. Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients;Frontiers in Neurology;2023-12-18
2. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations;Molecular Genetics & Genomic Medicine;2023-08-18
3. Molecular Mechanisms of Epilepsy: The Role of the Chloride Transporter KCC2;Journal of Molecular Neuroscience;2022-07
4. Mutants of the Zebrafish K+ Channel Hcn2b Exhibit Epileptic-like Behaviors;International Journal of Molecular Sciences;2021-10-25
5. Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels;iScience;2021-09
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