• 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

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

作者信息

Skorvanek Matej, Dusek Petr, Rydzanicz Malgorzata, Walczak Anna, Kosinska Joanna, Kostrzewa Grazyna, Brzozowska Malgorzata, Han Vladimir, Dosekova Petra, Gdovinova Zuzana, Lehotska Zdenka, Lisowski Pawel, Ploski Rafal

机构信息

Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.

Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.

出版信息

Parkinsonism Relat Disord. 2019 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24.

DOI:10.1016/j.parkreldis.2019.01.017
PMID:30733140
Abstract
摘要

相似文献

1
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?与IRF2BPL基因突变相关的神经发育障碍：扩展表型？
Parkinsonism Relat Disord. 2019 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24.
2
IRF2BPL gene mutation: Expanding on neurologic phenotypes.IRF2BPL 基因突变：扩展神经表型。
Am J Med Genet A. 2019 Nov;179(11):2263-2271. doi: 10.1002/ajmg.a.61328. Epub 2019 Aug 20.
3
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.无内含子的 IRF2BPL 中的从头截短变异导致发育性癫痫性脑病。
Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31.
4
Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.由 IRF2BPL 从头产生的截短变异引起的神经发育障碍。
Seizure. 2021 Jan;84:47-52. doi: 10.1016/j.seizure.2020.11.006. Epub 2020 Nov 19.
5
De novo variants of IRF2BPL result in developmental epileptic disorder.IRF2BPL 新生变异导致发育性癫痫障碍。
Orphanet J Rare Dis. 2024 Mar 13;19(1):121. doi: 10.1186/s13023-024-03130-z.
6
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.成人起病的家族性肌张力障碍叠加综合征：IRF2BPL相关神经变性的一种新表现。
Parkinsonism Relat Disord. 2022 Jan;94:22-24. doi: 10.1016/j.parkreldis.2021.10.033. Epub 2021 Nov 14.
7
IRF2BPL gene variants with dystonia: one new Chinese case report.伴有肌张力障碍的IRF2BPL基因变异：1例新的中国病例报告
BMC Neurol. 2023 Jan 21;23(1):32. doi: 10.1186/s12883-023-03077-x.
8
IRF2BPL: A new genotype for progressive myoclonus epilepsies.IRF2BPL：进行性肌阵挛性癫痫的新基因型。
Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9.
9
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.IRF2BPL 作为进行性肌阵挛性癫痫的一个新的致病基因。
Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8.
10
A novel IRF2BPL truncating variant is associated with endolysosomal storage.一个新的 IRF2BPL 截断变异与内溶酶体储存有关。
Mol Biol Rep. 2020 Jan;47(1):711-714. doi: 10.1007/s11033-019-05109-7. Epub 2019 Oct 3.

引用本文的文献

1
Clinical characterization of IRF2BPL mutation: Case series and review of the literature.IRF2BPL突变的临床特征：病例系列及文献综述
Medicine (Baltimore). 2025 Jan 3;104(1):e41078. doi: 10.1097/MD.0000000000041078.
2
Clinical and genetic spectrum of patients with IRF2BPL syndrome.IRF2BPL 综合征患者的临床和基因谱
J Hum Genet. 2025 Apr;70(4):181-188. doi: 10.1038/s10038-025-01316-2. Epub 2025 Jan 22.
3
Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.
从精神病学角度拓展NEDAMSS的表型：一例新病例分析及文献系统综述
Eur Child Adolesc Psychiatry. 2025 Mar;34(3):835-852. doi: 10.1007/s00787-024-02522-7. Epub 2024 Jul 20.
4
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.与IRF2BPL基因变异相关的新型人类神经发育和神经退行性疾病——机制与治疗途径
Front Neurosci. 2024 Jun 6;18:1426177. doi: 10.3389/fnins.2024.1426177. eCollection 2024.
5
Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.在一个台湾地区的肌张力障碍队列中对 IRF2BPL 的遗传分析：基因型与表型的相关性。
Ann Clin Transl Neurol. 2024 Jun;11(6):1557-1566. doi: 10.1002/acn3.52072. Epub 2024 Apr 22.
6
De novo variants of IRF2BPL result in developmental epileptic disorder.IRF2BPL 新生变异导致发育性癫痫障碍。
Orphanet J Rare Dis. 2024 Mar 13;19(1):121. doi: 10.1186/s13023-024-03130-z.
7
IRF2BPL gene variants with dystonia: one new Chinese case report.伴有肌张力障碍的IRF2BPL基因变异：1例新的中国病例报告
BMC Neurol. 2023 Jan 21;23(1):32. doi: 10.1186/s12883-023-03077-x.
8
Cerebral Iron Deposition in Neurodegeneration.脑铁沉积与神经变性疾病。
Biomolecules. 2022 May 17;12(5):714. doi: 10.3390/biom12050714.
9
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.IRF2BPL的缺失通过过量的Wnt信号传导损害神经元维持。
Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19.
10
Genetic Dystonias: Update on Classification and New Genetic Discoveries.遗传性运动障碍：分类更新和新的遗传学发现。
Curr Neurol Neurosci Rep. 2021 Feb 9;21(3):8. doi: 10.1007/s11910-021-01095-1.