Mahesan Aakash, Kamila Gautam, Gulati Sheffali
Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Ann Indian Acad Neurol. 2024 Jul 1;27(4):352-357. doi: 10.4103/aian.aian_49_24. Epub 2024 Aug 16.
Dravet syndrome (DS) is a developmental epileptic encephalopathy, characterized by fever-triggered focal or hemiclonic seizures at onset with various associated comorbidities like intellectual disability, gait abnormalities, and behavioral issues. It typically advances to drug-refractory epilepsy with multiple seizure semiology. In this review, we give a focused narrative on the treatment aspects of DS. We searched the PubMed database for articles on DS. More than 500 articles were reviewed, of which 55 relevant articles are included in this review. ClinicalTrials.gov database was also accessed for data on ongoing trials. Majority are caused by mutations in the SCN1A gene. Valproate and clobazam are the most commonly used traditional antiseizure medications. Stiripentol, fenfluramine, and cannabidiol are recently approved drugs with promising results. Ketogenic diet and vagus nerve stimulation are commonly tried nonpharmacologic modalities that have shown significant responses. Antisense oligonucleotides and viral vector-mediated gene transfer therapies are on the horizon. This review outlines the current existing treatment rationale, evidence for newly approved drugs, and the future scope of gene therapy in DS.
德拉韦综合征（DS）是一种发育性癫痫性脑病，其特征为起病时发热引发的局灶性或半侧阵挛性发作，并伴有多种相关合并症，如智力残疾、步态异常和行为问题。它通常会发展为具有多种发作形式的药物难治性癫痫。在本综述中，我们重点讲述了DS的治疗方面。我们在PubMed数据库中搜索了关于DS的文章。共查阅了500多篇文章，其中55篇相关文章纳入了本综述。我们还访问了ClinicalTrials.gov数据库以获取正在进行的试验数据。大多数病例由SCN1A基因突变引起。丙戊酸盐和氯巴占是最常用的传统抗癫痫药物。司替戊醇、芬氟拉明和大麻二酚是最近获批且疗效 promising 的药物。生酮饮食和迷走神经刺激是常用的非药物治疗方法，已显示出显著疗效。反义寡核苷酸和病毒载体介导的基因转移疗法即将出现。本综述概述了目前现有的治疗原理、新获批药物的证据以及DS基因治疗的未来前景。 （注：原文中“promising results”直译为“有希望的结果”，这里意译为“疗效 promising”，使表达更符合中文习惯）
