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GABA receptor γ2 subunit mutation P282S causes spontaneous seizures in transgenic zebrafish model

作     者:Zhang Qi Shen Mi Shen Yuntian Zhou Jing Wang Jie Liang Wenpeng 

作者机构:Key Laboratory of Neuroregeneration of Jiangsu and Ministry of EducationNantong 226001 

出 版 物:《解剖学杂志》 (Chinese Journal of Anatomy)

年 卷 期:2021年第44卷第S1期

页      面:214-214页

学科分类:1002[医学-临床医学] 10[医学] 

主  题:seizures epilepsy drugs 

摘      要:A de novo γ-aminobutyric acid type A(GABA_(A))receptor γ2 subunit P282S mutation was recently found in a patient with epileptic encephalopathy(EE).The patient s seizures remained intractable,although a slight improvement was observed with Lamotrigine(LTG)*** explore the pathological mechanism of GABRG2(P282S)mutation in epilepsy and to screen some effective anti-epileptic drugs in vivo,we established a transgenic zebrafish model with human GABRG2(P282S)*** transgenic zebrafish was generated by overexpressing mutant human GABRG2(P282S)subunits in neurons.

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