Research progress of GABRG2 mutations and epilepsy
10.3760/cma.j.cn113694-20200317-00181
- VernacularTitle:GABRG2基因突变与癫痫相关性研究进展
- Author:
Yongli JIANG
1
;
Wen JIANG
Author Information
1. 空军军医大学西京医院神经内科，西安 710032
- From:
Chinese Journal of Neurology
2020;53(10):824-829
- CountryChina
- Language:Chinese
-
Abstract:
Epilepsy is a common chronic neurological disorder. The exploration of its pathophysiology has been one of the important directions in brain research. The GABA-ergic pathway mediated by GABA A receptors (GABA AR) plays a critical role in the development of epilepsy. Among all the GABA AR subunits, mutations in GABRG2 have been most frequently associated with epilepsy. By mainly influencing GABA AR trafficking and clustering at synapses, all of these mutations impair GABA-ergic inhibitory synaptic transmission to different extents, and cause epilepsy syndromes with different clinical phenotypes. This review will focus on the research progress of GABRG2 mutations and epilepsy, and provide the basis for precise diagnosis and individualized treatment of epilepsy patients.
