2024年12月25日 · GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2) is a Protein Coding gene. Diseases associated with GABRG2 include Febrile Seizures, Familial, 8 and Developmental And Epileptic Encephalopathy 74. Among its related pathways are Transmission across Chemical Synapses and GABA B receptor activation.

Mutations in GABRG2 have been associated simple febrile seizures (FS) and with genetic epilepsy syndromes including, childhood absence epilepsy (CAE), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic …

GABA 是哺乳动物大脑中的主要抑制性神经递质，它作用于 GABA-A 受体，即配体门控氯离子通道。 GABA-A 受体是五聚体，由来自几个亚基类别的蛋白质组成：α、β、γ、δ 和 rho。 该基因的突变与癫痫和热性惊厥有关。 已经为该基因鉴定了编码不同亚型的多个转录物变体。 [RefSeq 提供，2008 年 7 月] This gene encodes a gamma-aminobutyric acid (GABA) receptor.

What are GABRG2-related disorders? GABRG2-related neurodevelopmental disorders are caused by genetic variants in the GABRG2 gene. They are genetic epilepsy syndromes characterized by febrile and non-febrile seizures and developmental delay. The symptoms a child experiences and the severity of their condition can vary widely.

2021年1月22日 · gabrg2是gaba a r基因中最常见的癫痫致病基因，该基因突变主要通过影响受体在细胞膜上的表达及在突触后膜的聚集性，使得gaba能抑制性通路功能受损，进而导致多种临床表型不同的癫痫综合征。

Although GABRG2 has been found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, a role for the tested GABRG2 variant in migraine is not supported. Our data suggest the K289M mutation in gamma2 confers GABA(A)Rs with enhanced sensitivity of their membrane diffusion to neuronal activity

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene. Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors.

2025年2月8日 · The Gabrg2 gene is essential for benzodiazepine modulation of GABAergic inhibitory neurotransmission in vivo. In summary, we demonstrate Fyn as one of the SFKs that binds to and phosphorylates the gamma2 subunit of the GABA(A) receptor.

2024年3月5日 · Clinical resource with information about GABRG2, Developmental and epileptic encephalopathy, 74, Febrile seizures, familial, 8, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

gabrg2. 基因产物：γ-氨基丁酸a受体γ2亚单位。 蛋白功能：属于配体门控型氯离子通道，是脑内主要抑制性神经递质gabaa异源五聚体受体的组成部分（示意图1）[6]。