Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
10.1007/s12264-017-0191-5
- Author:
Xing-Xing XU
1
;
Jian-Hong LUO
2
Author Information
1. Department of Neurobiology, Key Laboratory of Medical Neurobiology (Ministry of Health of China), Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, 310058, China.
2. Department of Neurobiology, Key Laboratory of Medical Neurobiology (Ministry of Health of China), Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, 310058, China. luojianhong@zju.edu.cn.
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Mutation;
NMDA receptors;
Subunit
- MeSH:
Animals;
Epilepsy;
genetics;
Genetic Predisposition to Disease;
genetics;
Humans;
Mutation;
genetics;
Receptors, N-Methyl-D-Aspartate;
genetics
- From:
Neuroscience Bulletin
2018;34(3):549-565
- CountryChina
- Language:English
-
Abstract:
Epilepsy is one of the most common neurological diseases. Of all cases, 70%-80% are considered to be due to genetic factors. In recent years, a large number of genes have been identified as being involved in epilepsy. Among them, N-methyl-D-aspartate receptor (NMDAR) subunit-encoding genes represent a large proportion, suggesting an important role for NMDARs in epilepsy. In this review, we summarize and analyze the genotypes, functional alterations, and clinical aspects of NMDAR subunit mutations/variants identified from patients with epilepsy. These data will help to throw light upon the pathogenicity of these NMDAR mutations and advance our understanding of the subtle and complicated role of NMDARs in epilepsy. It will also offer new insights into precision therapy for this disorder.
