Gao Chao, Pielas Mikolaj, Jiao Fuyong, Mei Daoqi, Wang Xiaona, Kotulska Katarzyna, Jozwiak Sergiusz
Department of Rehabilitation Medicine, Henan Children's Hospital, Zhengzhou University, Zhengzhou 450018, China.
Department of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
J Clin Med. 2023 Mar 27;12(7):2532. doi: 10.3390/jcm12072532.
Dravet Syndrome (DS) is a developmental epileptic encephalopathy characterized by drug-resistant seizures and other clinical features, including intellectual disability and behavioral, sleep, and gait problems. The pathogenesis is strongly connected to voltage-gated sodium channel dysfunction. The current consensus of seizure management in DS consists of a combination of conventional and recently approved drugs such as stiripentol, cannabidiol, and fenfluramine. Despite promising results in randomized clinical trials and extension studies, the prognosis of the developmental outcomes of patients with DS remains unfavorable. The article summarizes recent changes in the therapeutic approach to DS and discusses ongoing clinical research directions. Serotonergic agents under investigation show promising results and may replace less DS-specific medicines. The use of antisense nucleotides and gene therapy is focused not only on symptom relief but primarily addresses the underlying cause of the syndrome. Novel compounds, after expected safe and successful implementation in clinical practice, will open a new era for patients with DS. The main goal of causative treatment is to modify the natural course of the disease and provide the best neurodevelopmental outcome with minimum neurological deficit.
德雷维特综合征（DS）是一种发育性癫痫性脑病，其特征为耐药性癫痫发作以及其他临床特征，包括智力残疾和行为、睡眠及步态问题。其发病机制与电压门控钠通道功能障碍密切相关。目前关于DS癫痫治疗的共识是联合使用传统药物和近期获批的药物，如司替戊醇、大麻二酚和芬氟拉明。尽管在随机临床试验和扩展研究中取得了令人鼓舞的结果，但DS患者发育结局的预后仍然不容乐观。本文总结了DS治疗方法的近期变化，并讨论了正在进行的临床研究方向。正在研究的血清素能药物显示出有前景的结果，可能会取代针对性较差的药物。反义核苷酸和基因治疗的应用不仅着眼于缓解症状，更主要的是针对该综合征的根本病因。新型化合物在临床实践中预期安全成功应用后，将为DS患者开启一个新时代。病因治疗的主要目标是改变疾病的自然进程，以最小的神经功能缺损实现最佳的神经发育结局。
