Recent advance in role of sub-molecular mechanism in genotype-phenotype association of epilepsy
10.3760/cma.j.cn115354-20240827-00513
- VernacularTitle:亚分子机制在癫痫基因型-表型相关性研究中的作用研究进展
- Author:
Rui LIU
1
;
Cuishan WANG
;
Kang LIU
;
Jia PAN
;
Hongyi HUANG
;
Xiaoyu CAI
;
Xuqing LIN
;
Yiwu SHI
;
Na HE
Author Information
1. 广州医科大学第二临床学院，广州 510260
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Sub-molecular mechanism;
Genotype-phenotype association
- From:
Chinese Journal of Neuromedicine
2025;24(3):299-303
- CountryChina
- Language:Chinese
-
Abstract:
Approximately 70% epilepsy may be associated with genetic etiology. To date, more than 2 900 genes related to epilepsy have been reported, and genotype-phenotype association in epilepsy has received increasing attention. Explaining how mutations in the same gene can lead to different diseases or phenotypes remains challenging. Sub-molecular mechanisms, including functional structural domains, amino acid substitutions, isoforms, and monoallelic/biallelic mutations, provide new perspectives for deciphering genotype-phenotype association in epilepsy. This review summarizes the role of sub-molecular mechanisms in genotype-phenotype association in epilepsy, to provide new strategies for clinical diagnosis and precise treatment of epilepsy.
