Research progress of N⁃methyl⁃D⁃aspartate receptor GRIN2A gene variations and epilepsy

Abstract

In recent years, with the rapid development of gene sequencing technology, a variety of epilepsy pathogenic genes have been discovered, among which GRIN2A gene variations encoding the neurotransmitter N⁃methyl⁃D⁃aspartate receptor (NMDAR) are closely related to the occurrence of epilepsy. At present, there are relatively few studies on the function of epileptic related variations in GRIN2A gene. The resulting epilepsy phenotypes are complex and varied, and different patients have different therapeutic effects on different drugs. This paper briefly summarizes the possible relationship between the changes of NMDAR structure and function caused by GRIN2A gene variations and the clinical phenotype of epilepsy, providing clues for the precise treatment of epilepsy.

doi：10.3969/j.issn.1672⁃6731.2023.02.003