• 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

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.

作者信息

Pauly Martje G, Thomsen Mirja, Tadic Vera, Busch Hauke, Depienne Christel, Lohmann Katja, Klein Christine, Brüggemann Norbert

机构信息

Department of Neurology, University Hospital Schleswig Holstein, Ratzeburger Allee 160, 23538, Lübeck, Germany; Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany.

Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany.

出版信息

Parkinsonism Relat Disord. 2025 Feb;131:107260. doi: 10.1016/j.parkreldis.2025.107260. Epub 2025 Jan 2.

DOI:10.1016/j.parkreldis.2025.107260
PMID:39788039
Abstract
摘要

相似文献

1
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.KCNN2相关的肌阵挛性肌张力障碍患者中脑深部电刺激效果不佳。
Parkinsonism Relat Disord. 2025 Feb;131:107260. doi: 10.1016/j.parkreldis.2025.107260. Epub 2025 Jan 2.
2
KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.常染色体显性震颤性肌阵挛-肌张力障碍中的 KCNN2 突变。
Eur J Neurol. 2020 Aug;27(8):1471-1477. doi: 10.1111/ene.14228. Epub 2020 May 3.
3
Bilateral globus pallidus interna deep-brain stimulation in a patient with myoclonus-dystonia: a case report.双侧苍白球内侧深部脑刺激治疗肌阵挛-肌张力障碍 1 例报告
Neuromodulation. 2014 Dec;17(8):724-8. doi: 10.1111/ner.12162. Epub 2014 Feb 25.
4
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.深部脑刺激治疗 Russell-Silver 综合征相关肌阵挛-肌张力障碍的不典型表现
Tremor Other Hyperkinet Mov (N Y). 2023 Oct 30;13:40. doi: 10.5334/tohm.782. eCollection 2023.
5
KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.KCNN2 突变致儿童震颤-肌阵挛-共济失调-肌张力障碍综合征及其电生理评估
Tremor Other Hyperkinet Mov (N Y). 2022 Jan 24;12:2. doi: 10.5334/tohm.668. eCollection 2022.
6
Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations.苍白球深部脑刺激治疗无 SGCE 突变的肌阵挛-肌张力障碍患者。
J Neurol. 2024 Jun;271(6):2948-2954. doi: 10.1007/s00415-024-12334-z. Epub 2024 Apr 4.
7
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.无框架机器人辅助苍白球深部脑刺激术治疗小儿运动障碍患者：精准度及短期临床结果
J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20.
8
Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.深部脑刺激治疗肌阵挛-肌张力障碍综合征：一项个体患者数据的荟萃分析。
Neurosurg Rev. 2021 Feb;44(1):451-462. doi: 10.1007/s10143-019-01233-x. Epub 2020 Jan 3.
9
Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation.苍白球深部脑刺激术后肌阵挛性肌张力障碍中孤立性肌阵挛表型的改善
Tremor Other Hyperkinet Mov (N Y). 2016 Mar 9;6:369. doi: 10.7916/D8F47P0C. eCollection 2016.
10
A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation.一例具有孤立性肌阵挛表型和新突变的肌阵挛性肌张力障碍病例报告，经深部脑刺激成功治疗
Neurol Ther. 2020 Jun;9(1):187-191. doi: 10.1007/s40120-020-00186-4. Epub 2020 Apr 9.

引用本文的文献

1
Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.双侧苍白球内侧部脑深部电刺激治疗与KCNN2基因突变相关的肌阵挛性肌张力障碍的长期疗效：一项病例研究
Int J Mol Sci. 2025 Aug 10;26(16):7736. doi: 10.3390/ijms26167736.
2
Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.小儿遗传性肌张力障碍：当前的诊断方法与治疗选择
Life (Basel). 2025 Jun 20;15(7):992. doi: 10.3390/life15070992.