Research progress on GRIN1 gene mutation-related epilepsy： From mechanisms to clinical applications
10.19845/j.cnki.zfysjjbzz.2025.0134
- VernacularTitle:GRIN1 基因突变相关癫痫的研究进展：从机制到临床
- Author:
Yanling TANG
1
;
Xiaorong LIU
2
;
Jia LI
2
Author Information
1. 广州医科大学第二临床学院，广东 广州 510260
2. 广州医科大学第二临床学院，广东 广州 510260;广州医科大学附属第二医院神经内科，广东 广州 510260
- Publication Type:Journal Article
- Keywords:
GRIN1;
Epilepsy;
N-methyl-D-aspartate receptor;
Molecular mechanism;
Clinical phenotypes
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(8):697-703
- CountryChina
- Language:Chinese
-
Abstract:
Epilepsy is a chronic neurological disease characterized by abnormal synchronous discharges of brain neurons. The mutation of GRIN1， a key gene encoding the essential GluN1 subunit of N-methyl-D-aspartate （NMDA） receptors， is closely associated with the pathogenesis and progression of epilepsy. This review summarizes research advances in GRIN1 mutation-related epilepsy， with a focus on its molecular mechanisms， clinical phenotypes， factors influencing phenotypic heterogeneity， and treatment strategies. In terms of molecular mechanisms， GRIN1 mutations affect NMDA receptor function through gain-of-function and loss-of-function mechanisms. Clinical phenotypes show significant heterogeneity， including seizure types， age of onset， and comorbid neurodevelopmental disorders. This heterogeneity may be related to the domain where the mutation is located， the mutation type， and the degree of impact on receptor function. Regarding treatment， gain-of-function mutations can be managed with NMDA receptor antagonists， while loss-of-function mutations may be treated with positive allosteric modulators. The ketogenic diet has also demonstrated potential therapeutic effects. This review aims to provide references for basic research and clinical translation in GRIN1 mutation-related epilepsy， and to promote the development of precision diagnosis and treatment.
- Full text:202509041021264656GRIN1 基因突变相关癫痫的研究进展：从机制到临床.pdf
