• 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

局灶性癫痫的遗传学:我们知道什么,又将走向何方?

Genetics of Focal Epilepsies: What Do We Know and Where Are We Heading?

作者信息

Perucca Piero

机构信息

Senior Research Fellow, Department of Neuroscience, Central Clinical School, Monash University, Melbourne; Consultant Neurologist, Department of Neurology, The Royal Melbourne Hospital, Melbourne; Consultant Neurologist, Department of Neurology, Alfred Health, Melbourne; Honorary Senior Fellow, Melbourne Medical School, The University of Melbourne, Melbourne, VIC, Australia.

出版信息

Epilepsy Curr. 2018 Nov-Dec;18(6):356-362. doi: 10.5698/1535-7597.18.6.356.

DOI:10.5698/1535-7597.18.6.356
PMID:30568546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6278742/
Abstract

This article is based on a lecture delivered at the 2017 American Epilepsy Society Annual Meeting and provides an overview of the growing evidence supporting the strong genetic contribution to focal epilepsies. This also discusses how advances in the molecular genetics of focal epilepsies are rapidly translating to routine clinical care.

摘要

本文基于在2017年美国癫痫学会年会上发表的一次演讲,概述了越来越多的证据支持基因对焦灶性癫痫有重大影响。本文还讨论了局灶性癫痫分子遗传学的进展如何迅速转化为常规临床护理。

相似文献

1
Genetics of Focal Epilepsies: What Do We Know and Where Are We Heading?局灶性癫痫的遗传学:我们知道什么,又将走向何方?
Epilepsy Curr. 2018 Nov-Dec;18(6):356-362. doi: 10.5698/1535-7597.18.6.356.
2
The contribution of next generation sequencing to epilepsy genetics.下一代测序技术对癫痫遗传学的贡献。
Expert Rev Mol Diagn. 2015;15(12):1531-8. doi: 10.1586/14737159.2015.1113132. Epub 2015 Nov 13.
3
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.常染色体显性局灶性癫痫的遗传学进展:聚焦于DEPDC5
Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.
4
Recent patents on epilepsy genetics.癫痫遗传学的近期专利。
Recent Pat DNA Gene Seq. 2009;3(3):183-92. doi: 10.2174/187221509789318414.
5
Epilepsy genetics revolutionizes clinical practice.癫痫遗传学彻底改变了临床实践。
Neuropediatrics. 2014 Apr;45(2):70-4. doi: 10.1055/s-0034-1371508. Epub 2014 Mar 10.
6
mTOR signaling pathway genes in focal epilepsies.局灶性癫痫中的mTOR信号通路基因
Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7.
7
Precipitation and inhibition of seizures in focal epilepsies.局灶性癫痫的发作与抑制。
Expert Rev Neurother. 2018 Apr;18(4):275-287. doi: 10.1080/14737175.2018.1455502. Epub 2018 Mar 27.
8
Epilepsy Overview and Revised Classification of Seizures and Epilepsies.癫痫概述及癫痫发作与癫痫的修订分类
Continuum (Minneap Minn). 2019 Apr;25(2):306-321. doi: 10.1212/CON.0000000000000707.
9
Adult Focal Epilepsies.成人局灶性癫痫
Continuum (Minneap Minn). 2016 Feb;22(1 Epilepsy):94-115. doi: 10.1212/CON.0000000000000290.
10
The genetics of epilepsies.癫痫的遗传学
J Pediatr (Rio J). 2008 Aug;84(4 Suppl):S33-9. doi: 10.2223/JPED.1800. Epub 2008 Sep 16.

引用本文的文献

1
Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research.癫痫的基因检测:改善治疗效果并揭示研究空白
Epilepsy Curr. 2024 Mar 25:15357597241232881. doi: 10.1177/15357597241232881.
2
Applications for Deep Learning in Epilepsy Genetic Research.深度学习在癫痫遗传学研究中的应用。
Int J Mol Sci. 2023 Sep 27;24(19):14645. doi: 10.3390/ijms241914645.
3
Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.在三个局灶性癫痫家系中鉴定到的 NPRL3 新突变的功能特征。
Sci China Life Sci. 2023 Sep;66(9):2152-2166. doi: 10.1007/s11427-022-2313-1. Epub 2023 Apr 12.
4
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.PIK3C2B 基因突变导致的脂质信号转导缺陷是局灶性癫痫的基础。
Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082.
5
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.利用携带离子通道和雷帕霉素作用机制靶点突变的人诱导多能干细胞衍生神经元培养物模拟癫痫
Front Mol Neurosci. 2022 Mar 10;15:810081. doi: 10.3389/fnmol.2022.810081. eCollection 2022.
6
Flies as a Screening Model for Traditional Medicine: Anticonvulsant Effects of .苍蝇作为传统医学的筛选模型:……的抗惊厥作用
Front Neurol. 2021 Jan 13;11:606919. doi: 10.3389/fneur.2020.606919. eCollection 2020.

本文引用的文献

1
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.将癫痫遗传学融入临床实践:360°评估
NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018.
2
Epilepsy.癫痫。
Nat Rev Dis Primers. 2018 May 3;4:18024. doi: 10.1038/nrdp.2018.24.
3
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.脑内体染色体 SLC35A2 变异与难治性新皮层癫痫有关。
Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16.
4
Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review.遗传性难治性癫痫患者的癫痫手术:一项系统评价
Epileptic Disord. 2018 Apr 1;20(2):99-115. doi: 10.1684/epd.2018.0959.
5
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.体突变激活中脑背侧祖细胞中的 mTOR 通路导致皮质发育不良的连续谱。
Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106.
6
Precision therapy for epilepsy due to mutations: A randomized trial of oral quinidine.致 突变相关癫痫的精准治疗:口服奎尼丁的随机试验。
Neurology. 2018 Jan 2;90(1):e67-e72. doi: 10.1212/WNL.0000000000004769. Epub 2017 Dec 1.
7
Familial mesial temporal lobe epilepsy and the borderland of déjà vu.家族性内侧颞叶癫痫与似曾相识的交界。
Ann Neurol. 2017 Aug;82(2):166-176. doi: 10.1002/ana.24984. Epub 2017 Jul 19.
8
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.全外显子组测序联合靶向基因分析在局灶性癫痫中的真实世界应用价值。
Epilepsy Res. 2017 Mar;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. Epub 2017 Feb 7.
9
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.常见癫痫症中的超罕见遗传变异:病例对照测序研究。
Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.
10
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.癫痫性脑病和家族性癫痫中的基因检测板测试
Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20.