中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (10): 779-784.DOI: 10.19538/j.ek2023100614

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GABAA受体基因相关癫痫研究进展

  

  1. 北京大学第一医院儿科，北京  100034
  • 出版日期:2023-10-06 发布日期:2023-09-28
  • 通讯作者: 张月华，电子信箱：zhangyhdr@126.com
  • 基金资助:
    国家自然科学基金项目（82071451）；中国博士后基金（2021M700290）；中央高水平医院临床科研业务费资助（北京大学第一医院科研种子基金项目）（2022SF08）；中国抗癫痫协会AMPA机制及抗癫痫药物研究科研基金（CW-2022-017）

Research progress of GABAA-receptor gene related epilepsy

  1. Department of Pediatrics，Peking University First HospitaL，Beijing  100034，China
  • Online:2023-10-06 Published:2023-09-28

摘要： 氯离子通道是维持机体内环境稳态的重要离子通道之一，γ-氨基丁酸（γ-Aminobutyric acid，GABA）与GABA受体的结合可开启氯离子通道，进而导致氯离子内流，使突触后膜产生超极化并抑制突触后神经元的电活动。依据GABA受体对兴奋剂和拮抗剂敏感性的区别，可将GABA受体分为3种药理学分型：GABAA、GABAB和GABAC。GABAA受体是中枢神经系统最重要的抑制性受体，也是许多抗癫痫药物的作用靶点。该文对GABAA受体相关基因变异导致癫痫的研究进展进行综述。

关键词: GABAA受体, 癫痫, 基因

Abstract: Chloride ion channels are one of the important ion channels that maintain homeostasis in the body. The binding of γ-aminobutyric acid （GABA） to GABA receptors can activate chloride ion channels， resulting in the influx of chloride ions， hyperpolarization of the postsynaptic membrane， and inhibition of neuronal electrical activity. According to the differences in sensitivity of GABA receptors to agonists and antagonists， GABA receptors can be divided into three pharmacological subtypes: GABAA， GABAB， and GABAC. GABAA receptors are the most important inhibitory receptors in the central nervous system and serve as targets for many antiepileptic drugs. This article provides an overview of the research progress on epilepsy caused by genetic variations related to GABAA receptors.

Key words: GABAA-receptor, epilepsy, gene