• 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

相似文献

1
Post-modern therapeutic approaches for progressive myoclonus epilepsy.进行性肌阵挛癫痫的后现代治疗方法。
Epileptic Disord. 2016 Sep 1;18(S2):154-158. doi: 10.1684/epd.2016.0862.
2
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.进行性肌阵挛性癫痫:诊断、表型和治疗进展的范围综述。
Genes (Basel). 2024 Jan 27;15(2):171. doi: 10.3390/genes15020171.
3
The progressive myoclonus epilepsies.进行性肌阵挛癫痫
Prog Brain Res. 2014;213:113-22. doi: 10.1016/B978-0-444-63326-2.00006-5.
4
Progressive myoclonic epilepsies.进行性肌阵挛癫痫
J Child Neurol. 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201.
5
Emerging treatments for progressive myoclonus epilepsies.新兴治疗进行性肌阵挛性癫痫。
Expert Rev Neurother. 2020 Apr;20(4):341-350. doi: 10.1080/14737175.2020.1741350. Epub 2020 Mar 17.
6
New discoveries in progressive myoclonus epilepsies: a clinical outlook.进行性肌阵挛性癫痫的新发现:临床展望。
Expert Rev Neurother. 2018 Aug;18(8):649-667. doi: 10.1080/14737175.2018.1503949. Epub 2018 Aug 9.
7
Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for "deep phenotyping" in genetic epilepsies.
Epilepsia. 2023 Sep;64(9):2534-2535. doi: 10.1111/epi.17572. Epub 2023 Jul 15.
8
Efficacy of topiramate as add-on therapy in two different types of progressive myoclonic epilepsy.托吡酯作为附加疗法治疗两种不同类型进行性肌阵挛癫痫的疗效
Acta Medica (Hradec Kralove). 2013;56(1):36-8. doi: 10.14712/18059694.2014.37.
9
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.进行性肌阵挛性癫痫的最佳证据:精准治疗之路。
Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23.
10
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.进行性肌阵挛癫痫中的肌阵挛和癫痫发作:药理学与治疗试验
Epileptic Disord. 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861.

引用本文的文献

1
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.进行性肌阵挛性癫痫:诊断、表型和治疗进展的范围综述。
Genes (Basel). 2024 Jan 27;15(2):171. doi: 10.3390/genes15020171.
2
Myoclonus: Differential diagnosis and current management.肌阵挛:鉴别诊断与当前管理。
Epilepsia Open. 2024 Apr;9(2):486-500. doi: 10.1002/epi4.12917. Epub 2024 Feb 9.
3
Drug Treatment of Progressive Myoclonic Epilepsy.进行性肌阵挛性癫痫的药物治疗。
Paediatr Drugs. 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y.
4
Guaiacol as a drug candidate for treating adult polyglucosan body disease.愈创木酚作为治疗成年多聚糖体病的候选药物。
JCI Insight. 2018 Sep 6;3(17). doi: 10.1172/jci.insight.99694.

本文引用的文献

1
Lafora disease.拉福拉病
Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842.
2
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.哺乳动物雷帕霉素靶蛋白通路调节因子 NPRL2 和 NPRL3 的突变导致局灶性癫痫。
Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12.
3
Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia.显性遗传神经退行性疾病的基因抑制策略:来自亨廷顿舞蹈症和脊髓小脑共济失调的经验教训
Hum Mol Genet. 2016 Apr 15;25(R1):R53-64. doi: 10.1093/hmg/ddv442. Epub 2015 Oct 26.
4
Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system.Cpf1是2类CRISPR-Cas系统中的一种单RNA引导的内切核酸酶。
Cell. 2015 Oct 22;163(3):759-71. doi: 10.1016/j.cell.2015.09.038. Epub 2015 Sep 25.
5
Antisense Therapy for Cardiovascular Diseases.心血管疾病的反义疗法
Curr Pharm Des. 2015;21(30):4417-26. doi: 10.2174/1381612821666150803150402.
6
Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial Toxin.通过一种细菌毒素将结构多样的蛋白质货物高效递送至哺乳动物细胞
Mol Pharm. 2015 Aug 3;12(8):2962-71. doi: 10.1021/acs.molpharmaceut.5b00233. Epub 2015 Jul 2.
7
Off-target mutations are rare in Cas9-modified mice.脱靶突变在经Cas9修饰的小鼠中很少见。
Nat Methods. 2015 Jun;12(6):479. doi: 10.1038/nmeth.3408.
8
Spinal muscular atrophy--recent therapeutic advances for an old challenge.脊髓性肌萎缩症——旧挑战的最新治疗进展。
Nat Rev Neurol. 2015 Jun;11(6):351-9. doi: 10.1038/nrneurol.2015.77. Epub 2015 May 19.
9
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.环磷酰胺低剂量治疗晚发性泰-萨克斯病患者的疗效:一项开放标签的扩展试点研究。
Orphanet J Rare Dis. 2015 Apr 17;10:45. doi: 10.1186/s13023-015-0260-7.
10
In vivo genome editing using Staphylococcus aureus Cas9.使用金黄色葡萄球菌Cas9进行体内基因组编辑。
Nature. 2015 Apr 9;520(7546):186-91. doi: 10.1038/nature14299. Epub 2015 Apr 1.

进行性肌阵挛癫痫的后现代治疗方法。

Post-modern therapeutic approaches for progressive myoclonus epilepsy.

作者信息

Minassian Berge A

机构信息

The Hospital for Sick Children, Division of Neurology, Toronto, Canada.

出版信息

Epileptic Disord. 2016 Sep 1;18(S2):154-158. doi: 10.1684/epd.2016.0862.

DOI:10.1684/epd.2016.0862
PMID:27630083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5691359/
Abstract

While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood, and extremely difficult-to-correct, neural network of the brain is affected. This last article reviews the latest cutting edge technologies in monogenic disease therapy, with some examples provided applicable to a number of disease. It aims to give a sense of where we are and how much closer we are, to the goal of making an actual organic difference.

摘要

虽然早发性进行性脑病可以说是最严重的癫痫和神经疾病,但绝大多数是单基因的。此外,许多影响直接的生化途径。最后,根据定义,它们发生在先前健康且发育良好的大脑中。因此,与复杂的、尽管通常不太严重的神经发育障碍相比,它们的治疗应该更容易,在神经发育障碍中,大脑复杂的、了解甚少且极难纠正的神经网络会受到影响。最后一篇文章回顾了单基因疾病治疗中的最新前沿技术,并提供了一些适用于多种疾病的例子。它旨在让人们了解我们目前的状况,以及我们距离实现实际的机体改变目标还有多近。