Phenotypic spectrum and genetics of SCN 2A ‐related disorders, treatment options, and outcomes in epilepsy and beyond
Author:
Affiliation:
1. Pediatric Neurology Vivantes Hospital Neukoelln Berlin Germany
2. Paediatric Neurosciences Research Group Royal Hospital for Children & School of Medicine University of Glasgow Glasgow UK
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.14935
Reference77 articles.
1. Compact Myelin Dictates the Differential Targeting of Two Sodium Channel Isoforms in the Same Axon
2. Differential Control of Clustering of the Sodium Channels Nav1.2 and Nav1.6 at Developing CNS Nodes of Ranvier
3. Functional Specialization of the Axon Initial Segment by Isoform-Specific Sodium Channel Targeting
4. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
5. A missense mutation of the Na+ channel II subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
Cited by 76 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. Developmental and epileptic encephalopathies;Nature Reviews Disease Primers;2024-09-05
2. Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment;2024-08-06
3. Are SCN2A‐related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios;American Journal of Medical Genetics Part A;2024-07-08
4. Neurodevelopmental disorders caused by variants in TRPM3;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2024-06
5. Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort;Human Mutation;2024-05-28
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