Dravet综合征研究进展  

Advances in Dravet syndrome

作　　者：陈舒瑶(综述) 夏桂枝[1,2] 聂晓晶(审校) Chen Shuyao;Xia Guizhi;Nie Xiaojing(Department of Pediatrics,Clinical Medical College of Fuzhou General Hospital,Fujian Medical University,Fuzhou 350025,China;Department of Pediatrics,the 900th Hospital of Joint Logistic Support Force,PLA,Fuzhou 350025,China)

机构地区：[1]福建医科大学福总临床医学院儿科,福州350025 [2]中国人民解放军联勤保障部队第九〇〇医院儿科,福州350025

出　　处：《国际儿科学杂志》2023年第2期112-116,共5页International Journal of Pediatrics

基　　金：福建省科技创新联合资金项目(2019Y9043)。

摘　　要：Dravet综合征是一种少见且严重的发育性癫痫脑病,临床表型多变,诊断、治疗困难,相关共患病对患儿及家长的长期生活质量有深远的影响。SCN1A是Dravet综合征的主要致病基因,超过85%的患儿存在SCN1A基因突变。近年来,随着基因检测技术的发展和病例的积累,对Dravet综合征的癫痫发作特点、共患病和SCN1A基因突变特点的认识也逐渐深入。除常规抗癫痫药物外,新型抗癫痫药物(大麻二酚、芬氟拉明)亦显示出良好的抗癫痫作用,有望成为治疗Dravet综合征癫痫发作的二线药物。该文主要对Dravet综合征较为独特的临床表型、SCN1A基因突变特点和新型抗癫痫药物研究进展进行综述,以加深临床医生对该病的认识。Dravet syndrome is a rare and severe developmental epileptic encephalopathy with variable clinical phenotypes.Dravet syndrome is difficult to diagnose and treat,and related comorbidities have a profound impact on the long-term quality of life of patients and their parents.SCN1A is the main pathogenic gene of Dravet syndrome,and SCN1A mutations are found in more than 85%of the patients.In recent years,with the development of genetic testing technology and the accumulation of cases,the understanding of the characteristics of epileptic seizures,comorbidities and SCN1A gene mutation characteristics in Dravet syndrome has gradually deepened.In addition to conventional antiepileptic drugs,new antiepileptic drugs(cannabidiol,fenfluramine)have also shown good antiepileptic effects and are expected to become second-line drugs for the treatment of Dravet syndrome seizures.This article mainly reviews the research progress of unique clinical phenotype,SCN1A gene mutation characteristics and new antiepileptic drugs of Dravet syndrome,in order to deepen clinicians′understanding of the disease.

关 键 词：DRAVET综合征 临床表型 SCN1A基因 治疗 

分 类 号：R742.1[医药卫生—神经病学与精神病学]