Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference9 articles.
1. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology;Scheffer;Epilepsia,2017
2. Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy;Alsahli;Epilepsia Open,2018
3. Epilepsy genetics: current knowledge, applications, and future directions;Myers;Clin Genet,2019
4. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy;Nakashima;Ann Neurol,2018
5. Novel West syndrome candidate genes in a Chinese cohort;Peng;CNS Neurosci Ther,2018
Cited by 16 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. Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton;Human Molecular Genetics;2024-07-09
2. The mutated cytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)‐interacting protein 2 (CYFIP2 S968F) regulates cocaine‐induced reward behaviour and plasticity in the nucleus accumbens;British Journal of Pharmacology;2024-05-15
3. Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy;Acta Epileptologica;2023-06-28
4. Cell-autonomous reduction of CYFIP2 is insufficient to induce Alzheimer's disease-like pathologies in the hippocampal CA1 pyramidal neurons of aged mice;Animal Cells and Systems;2023-03-24
5. Expression of mRNA encoding two gain-of-functioncyfip2variants associated with DEE65 results in spontaneous seizures inXenopus laevistadpoles;2022-12-10
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