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high-resolution cryo-electron microscopy structures of the human alpha1beta2gamma2 GABAA receptor, the predominant isoform in the adult brain, in complex with GABA and the benzodiazepine site antagonist flumazenil, the first-line clinical treatment for benzodiazepine overdose
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Study found that the C588T polymorphism of GABARG2 is associated with an increased risk of developing childhood idiopathic generalized epilepsy and may modulate patients' response to antiepileptic drugs.
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This study demonstrated that GABRG2 expression in gamma2 in the cortical nuclei, and amygdalo-hippocampal/parahippocampal-amygdala transition areas.
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Differential GABRG2 structure disturbances are correlated with disease severity.
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A recurrent GABRG2 missense variant is associated with early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues.
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The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for Febrile seizure and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea.
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Study utilized targeted next-gen sequencing to identify a novel splicing variation (NM_198903.2:c.1249-1G > T) in the GABRG2 gene of a febrile seizure (FS) patient. The potential association of ten selected genetic polymorphisms in IL1RN (86-bp VNTR), IL10 (rs1900872), PTGS2 (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined.
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This study identified a missense de novo mutation in the GABAA receptor gamma2 subunit, P302L, in a patient with Dravet syndrome. The mutation has a novel pathogenic mechanism to cause defects in the conductance and gating of GABAA receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome.
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This study demonstrated that rescue of PTZ seizure threshold and thalamocortical oscillations in a Gabrg2+/Q390X KI mouse model of Dravet syndrome/GEFS+ by overexpression of wild-type gamma2HA subunits.
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Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies.
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This review suggest that the pathogenesis of GABRG2 mutations is likely to be due to a combination of reduction of channel function and disturbance of cellular homeostasis due to the presence of mutant protein.
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Nova1 interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1's potential mechanism as an oncogene may due to its interaction with GABAA Rgamma2.
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Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2+)-signalling was demonstrated in differentiating human DA neurons.
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common variants of GABRG2, RELN and NRG3 and the GABRG2-RELN-PTCH1 interaction networks might confer altered susceptibility to Hirschsprung disease.
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The gamma2 was the most abundant subunit in all rhombencephalic structures during development and in adults, whereas alpha subunits showed a structure- and age-characteristic distribution.
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GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset.
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This study demonstrated that in vivo cortical and thalamic measurements in a mouse model of human genetic childhood absence epilepsy and febrile seizures carrying a point mutation in the gamma2 subunit of the GABA(A) receptor
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Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors.
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Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration.
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Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy.
