Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference92 articles.
1. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion;Allen;Epilepsia,2016
2. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant;Angelini;Eur. J. Med. Genet.,2019
3. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients;Balagura;Eur. J. Paediatr. Neurol.,2020
4. Opposing effects on NaV1. 2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures;Ben-Shalom;Biol. Psychiatr.,2017
5. Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon;Boiko;Neuron,2001
Cited by 12 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. Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms;The Cerebellum;2024-07-24
2. Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal;Seizure: European Journal of Epilepsy;2024-07
3. Expression assay of calcium signaling related lncRNAs in autism;Molecular Biology Reports;2024-01-24
4. Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A;Human Genome Variation;2024-01-15
5. Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review;European Journal of Neurology;2023-07-17
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