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以德雷维特综合征为例谈癫痫精准医学

Dravet Syndrome as an Example of Precision Medicine in Epilepsy.

作者信息

Sullivan Joseph, Wirrell Elaine C

机构信息

Department of Neurology and Pediatrics, Benioff Children's Hospital Pediatric Epilepsy Center of Excellence, University of California San Francisco, San Francisco, CA, USA.

Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, MN, USA.

出版信息

Epilepsy Curr. 2022 Jun 3;23(1):4-7. doi: 10.1177/15357597221106281. eCollection 2023 Jan-Feb.

Abstract

Dravet syndrome (DS) is a drug-resistant, early-onset, developmental and epileptic encephalopathy where there have been many recently approved therapies with many more in development. With the availability of more syndrome specific treatment options coupled with an earlier diagnosis, DS is well-positioned to be an example of how a precise syndromic diagnosis can guide treatment choices and improve overall outcomes and also allow for the development of potential disease modifying therapies to address more than just seizures. In this review we summarize the current state of DS approved therapies and those that are in various stages of development.

摘要

德雷维特综合征(DS)是一种耐药性、早发性、发育性和癫痫性脑病,近期已有许多获批疗法,还有更多疗法正在研发中。随着更多针对该综合征的治疗选择的出现以及诊断的提前,DS有望成为一个范例,展示精确的综合征诊断如何指导治疗选择、改善总体预后,还能推动潜在疾病修饰疗法的开发,以解决不仅仅是癫痫发作的问题。在本综述中,我们总结了DS获批疗法的现状以及处于不同研发阶段的疗法。

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