• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

作者信息

Sival Deborah A, Vansenne Fleur, Van der Hout Annemieke H, Tijssen Marina A J, de Koning Tom J

机构信息

Department of Paediatrics, Paediatric Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

出版信息

Pediatr Neurol. 2018 Apr;81:57-58. doi: 10.1016/j.pediatrneurol.2017.12.009. Epub 2017 Dec 21.

DOI:10.1016/j.pediatrneurol.2017.12.009
PMID:29477659
Abstract
摘要

相似文献

1
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?发热诱导的阵发性无力和脑病（FIPWE）——ATP1A3突变患者表型连续体的一部分？
Pediatr Neurol. 2018 Apr;81:57-58. doi: 10.1016/j.pediatrneurol.2017.12.009. Epub 2017 Dec 21.
2
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants].[ATP1A3 致病变异导致的发热诱发性阵发性无力和脑病的表型和基因型特征]
Zhonghua Er Ke Za Zhi. 2019 Jul 2;57(7):543-547. doi: 10.3760/cma.j.issn.0578-1310.2019.07.010.
3
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.发热诱导的阵发性肌无力和脑病，ATP1A3突变的一种新表型。
Pediatr Neurol. 2017 Aug;73:101-105. doi: 10.1016/j.pediatrneurol.2017.04.022. Epub 2017 Apr 29.
4
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.ATP1A3基因中的一个新发p.Arg756Cys突变导致了一种独特的表型，其特征为发热引发的持续性肌无力和脑病。
Brain Dev. 2018 Mar;40(3):222-225. doi: 10.1016/j.braindev.2017.09.010. Epub 2017 Oct 21.
5
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.ATP1A3 756 位残基变异引起的复发性小脑共济失调伴脑病（RECA）的另一种表型：两例报告及文献复习。
Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2.
6
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.ATP1A3 谱障碍：7 例基因确诊的早发性病例的视频记录病史。
Eur J Paediatr Neurol. 2018 Mar;22(2):264-271. doi: 10.1016/j.ejpn.2018.01.010. Epub 2018 Jan 31.
7
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.与ATP1A3突变相关的复发性脑病伴小脑共济失调
Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.
8
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.ATP1A3 基因突变患儿神经表型谱不断扩大，包括儿童交替性偏瘫、快速进展性肌张力障碍 - 帕金森综合征、CAPOS 及其他。
Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.
9
A novel ATP1A3 mutation with unique clinical presentation.一种具有独特临床表现的新型ATP1A3突变。
J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.
10
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.一个具有特定ATP1A3突变的新谱系中的CAPOS综合征和偏瘫性偏头痛。
J Neurol Sci. 2015 Nov 15;358(1-2):453-6. doi: 10.1016/j.jns.2015.10.002. Epub 2015 Oct 3.

引用本文的文献

1
Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.疾病谱包括非发热诱发的阵发性无力和脑病。
Neurol Genet. 2024 Apr 25;10(3):e200150. doi: 10.1212/NXG.0000000000200150. eCollection 2024 Jun.
2
The Phenotypic Continuum of -Related Disorders.- 相关障碍的表型连续统。
Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18.
3
Genetically altered animal models for ATP1A3-related disorders.用于 ATP1A3 相关疾病的基因改造动物模型。
Dis Model Mech. 2021 Oct 1;14(10). doi: 10.1242/dmm.048938. Epub 2021 Oct 6.
4
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.ATP1A3 756 位残基变异引起的复发性小脑共济失调伴脑病（RECA）的另一种表型：两例报告及文献复习。
Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2.