{"title":"需要速度;利用高通量电生理学方法研究通道病相关癫痫。","authors":"Alfred L George, Evangelos Kiskinis","doi":"10.1177/15357597241280484","DOIUrl":null,"url":null,"abstract":"<p><p>Pathogenic variants in genes encoding ion channels are frequently discovered in monogenic disorders associated with epilepsy and neurodevelopmental disorders. This review covers advances in the use of automated patch clamp recording for determining the functional consequences of epilepsy-associated ion channel variants and the use of induced pluripotent stem cell (iPSC) derived neurons for in-depth investigations of the physiological consequences of such variants. The combination of these advanced technologies was a focus of the recently completed NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.</p>","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":"24 5","pages":"345-349"},"PeriodicalIF":5.8000,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536426/pdf/","citationCount":"0","resultStr":"{\"title\":\"The Need for Speed; Investigating Channelopathy-Associated Epilepsy Using High Throughput Electrophysiological Approaches.\",\"authors\":\"Alfred L George, Evangelos Kiskinis\",\"doi\":\"10.1177/15357597241280484\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Pathogenic variants in genes encoding ion channels are frequently discovered in monogenic disorders associated with epilepsy and neurodevelopmental disorders. This review covers advances in the use of automated patch clamp recording for determining the functional consequences of epilepsy-associated ion channel variants and the use of induced pluripotent stem cell (iPSC) derived neurons for in-depth investigations of the physiological consequences of such variants. The combination of these advanced technologies was a focus of the recently completed NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.</p>\",\"PeriodicalId\":11742,\"journal\":{\"name\":\"Epilepsy Currents\",\"volume\":\"24 5\",\"pages\":\"345-349\"},\"PeriodicalIF\":5.8000,\"publicationDate\":\"2024-10-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536426/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsy Currents\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/15357597241280484\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy Currents","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/15357597241280484","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
在与癫痫和神经发育障碍相关的单基因疾病中,经常会发现编码离子通道基因的致病变异。本综述介绍了使用自动膜片钳记录确定癫痫相关离子通道变异的功能性后果以及使用诱导多能干细胞(iPSC)衍生神经元深入研究此类变异的生理后果方面的进展。这些先进技术的结合是最近完成的由美国国家神经疾病研究所(NINDS)资助的无墙通道病相关癫痫研究中心(Channelopathy-associated Epilepsy Research Center without Walls)的工作重点。
The Need for Speed; Investigating Channelopathy-Associated Epilepsy Using High Throughput Electrophysiological Approaches.
Pathogenic variants in genes encoding ion channels are frequently discovered in monogenic disorders associated with epilepsy and neurodevelopmental disorders. This review covers advances in the use of automated patch clamp recording for determining the functional consequences of epilepsy-associated ion channel variants and the use of induced pluripotent stem cell (iPSC) derived neurons for in-depth investigations of the physiological consequences of such variants. The combination of these advanced technologies was a focus of the recently completed NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.
期刊介绍:
Epilepsy Currents is an open access, bi-monthly current-awareness journal providing reviews, commentaries and abstracts from the world’s literature on the research and treatment of epilepsy. Epilepsy Currents surveys and comments on all important research and developments in a format that is easy to read and reference. Each issue is divided into two main sections: Basic Science and Clinical Science. An outstanding Editorial Board reviews the literature and assigns topics and articles to world experts for comment. In addition, the Editors commission authoritative review articles on important subjects.