Genetic mechanisms and targeted treatment prospects for common developmental and epileptic encepha-lopathy
10.3969/j.issn.1002-0152.2023.10.007
- VernacularTitle:常见发育性癫痫性脑病遗传机制和靶向治疗前景
- Author:
Sirui CHEN
1
;
Tiancheng WANG
Author Information
1. 兰州大学第二临床医学院(兰州 730000)
- Keywords:
Developmental and epileptic encephalopathy;
Epileptic encephalopathy;
Epilepsy;
Gene;
Genetic mechanism;
Targeted therapy;
Gene therapy;
Antisense oligonucleotides
- From:
Chinese Journal of Nervous and Mental Diseases
2023;49(10):615-620
- CountryChina
- Language:Chinese
-
Abstract:
The majority of patients with developmental and epileptic encephalopathy(DEE)has genetic causes and presents with cognitive impairment and severe seizures.Although controlling seizures cannot improve cognitive impairment,targeted therapy based on individualized factors,corrects pathological and physiological processes with clear molecular genetic mechanisms in DEE patients,thereby achieving good clinical outcomes.According to the study of the molecular genetic mechanisms of related DEE such as SCN1A,KCNQ2/KCNQ3,CDKL5 and PCDH19,gene therapy such as antisense oligonucleotides(ASOs),Ataluren,adenovirus vectors,and gene editing has shown great promise for treatment of DEE,among which ASOs demonstrate enormous potential for treatment of DEE.Next-generation sequencing technologies,animal models,inducing polyenergic stem cell technologies,organ clusters from patient cells,and gene editing technologies can promote the development of future targeted epilepsy therapies.
