Progress on the impact of pathogenic gene mutations in epilepsy on treatment choices
10.3760/cma.j.issn.1673-4408.2023.05.007
- VernacularTitle:癫痫致病性基因突变对治疗选择影响的研究进展
- Author:
Yue WANG
1
;
Xiaona LUO
;
Yucai CHEN
Author Information
1. 上海市儿童医院 上海交通大学医学院附属儿童医院神经内科 200062
- Keywords:
Epilepsy;
Treatment;
Ion channel genes;
NMDA receptor genes;
mTOR pathway mutations
- From:
International Journal of Pediatrics
2023;50(5):321-325
- CountryChina
- Language:Chinese
-
Abstract:
In the past decade, significant progress has been made in the study of epilepsy-causing genetic mutations and the molecular mechanisms of epilepsy clinical manifestations.A growing number of studies have shown that the mechanism of action of pathogenic genes related to clinical symptoms shows significant correlation.In the selection of antiepileptic drugs for patients with different gene mutation, early identification of pathogenic genes has guiding significance for the selection of antiepileptic drugs.This review summairzes common epilepsy pathogenic genes, including ion channels genes, cellular metabolism related genes and cell signaling pathway related genes, and research progress on therapeutic targets corresponding to pathogenic genes in recent years.As research deepens, specific gene defects and their machanisms of action provide a basis for studying new treatment methods.
