• 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

Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2.

作者信息

Hoang Phuong T, Bledsoe Ian O, San Luciano Marta

机构信息

Movement Disorders and Neuromodulation Center, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California, USA.

出版信息

Mov Disord Clin Pract. 2025 Aug;12 Suppl 2(Suppl 2):S13-S15. doi: 10.1002/mdc3.70116. Epub 2025 May 7.

DOI:10.1002/mdc3.70116
PMID:40329844
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12372597/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7ab/12372597/3d41376a82dc/MDC3-12-S13-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7ab/12372597/3d41376a82dc/MDC3-12-S13-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7ab/12372597/3d41376a82dc/MDC3-12-S13-g001.jpg

相似文献

1
Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2.一名患有RHOBTB2 GTP酶结构域新型杂合错义变异的小男孩突发严重肌张力障碍、舞蹈症和偏瘫发作
Mov Disord Clin Pract. 2025 Aug;12 Suppl 2(Suppl 2):S13-S15. doi: 10.1002/mdc3.70116. Epub 2025 May 7.
2
Familial Hemiplegic Migraine家族性偏瘫性偏头痛
3
RHOBTB2-related paroxysmal hemiparesis: From alternating hemiplegia to hemiplegic migraine.
Parkinsonism Relat Disord. 2025 Apr;133:107340. doi: 10.1016/j.parkreldis.2025.107340. Epub 2025 Feb 14.
4
-Related Movement Disorder-相关运动障碍
5
CDKL5 Deficiency DisorderCDKL5缺陷障碍
6
A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.莫尔-特拉内布耶格综合征中一种新的TIMM8A突变，无听力损失且伴有基底节铁沉积。
Orphanet J Rare Dis. 2025 Jul 1;20(1):327. doi: 10.1186/s13023-025-03868-0.
7
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.扩展与线粒体三磷酸腺苷合酶缺陷相关的运动障碍的等位基因和临床异质性
Mov Disord. 2025 Jul;40(7):1388-1400. doi: 10.1002/mds.30209. Epub 2025 Apr 25.
8
WARS2 DeficiencyWARS2基因缺陷
9
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.以震颤-肌张力障碍综合征为表现的变异型共济失调-毛细血管扩张症在保加利亚一个宗教少数群体中的病例报告
Genes (Basel). 2025 May 27;16(6):641. doi: 10.3390/genes16060641.
10
Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.两名携带新型杂合TMEM151A移码变异的同胞患阵发性运动诱发性运动障碍：日本首例病例报告
Am J Med Genet A. 2025 Aug;197(8):e64079. doi: 10.1002/ajmg.a.64079. Epub 2025 Apr 1.

本文引用的文献

1
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.离子通道失调导致与RHOBTB2相关的发育性和癫痫性脑病。
Hum Mol Genet. 2025 Mar 20;34(7):639-650. doi: 10.1093/hmg/ddae183.
2
Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders.代谢、发育和遗传障碍中的严重急性运动恶化（SAME）。
Mov Disord. 2024 Sep;39(9):1446-1467. doi: 10.1002/mds.29905. Epub 2024 Aug 9.
3
Exploring the Spectrum of Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.
探索与64型发育性脑病相关的变异谱：病例系列与文献综述
Mov Disord Clin Pract. 2023 Sep 25;10(11):1671-1679. doi: 10.1002/mdc3.13880. eCollection 2023 Nov.
4
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.RHOBTB2 相关神经发育障碍的基因型-表型相关性。
Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8.
5
Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.突变扩展了儿童交替性偏瘫的表型谱。
Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/WNL.0000000000011543. Epub 2021 Jan 27.
6
Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.一名患有RHOBTB2发育性和癫痫性脑病的患者出现对卡马西平有反应的阵发性运动障碍。
Parkinsonism Relat Disord. 2020 Jul;76:54-55. doi: 10.1016/j.parkreldis.2020.05.031. Epub 2020 Jun 1.
7
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.一名患有RHOBTB2突变的患者头部外伤后出现急性脑病。
Neurol Genet. 2020 Apr 1;6(3):e418. doi: 10.1212/NXG.0000000000000418. eCollection 2020 Jun.
8
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.RHOBTB2 基因（一种非典型的 Rho GTPase 基因）中的新生变异可导致癫痫性脑病。
Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25.
9
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.RHOBTB2 错义变异导致人类发育性和癫痫性脑病，并改变果蝇中的神经缺陷水平。
Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.