Advances in Dravet syndrome
10.3760/cma.j.issn.1673-4408.2023.02.010
- VernacularTitle:Dravet综合征研究进展
- Author:
Shuyao CHEN
1
;
Guizhi XIA
;
Xiaojing NIE
Author Information
1. 福建医科大学福总临床医学院儿科，福州 350025
- Keywords:
Dravet syndrome;
Clinical phenotype;
SCN1A gene;
Treatment
- From:
International Journal of Pediatrics
2023;50(2):112-116
- CountryChina
- Language:Chinese
-
Abstract:
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.
