anti-gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) Antibodies

Human gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) interaction partners

1. 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.

2. 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.

3. Study utilized targeted next-gen (show GEN1 Antibodies) 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 (show IL1RN Antibodies) (86-bp VNTR), IL10 (show IL10 Antibodies) (rs1900872), PTGS2 (show PTGS2 Antibodies) (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined.

4. This study identified a missense de novo mutation in the GABAA (show GABRg1 Antibodies) 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 (show GABRg1 Antibodies) receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome.

5. 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.

6. Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies.

7. 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.

8. Nova1 (show NOVA1 Antibodies) interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1 (show NOVA1 Antibodies)'s potential mechanism as an oncogene (show RAB1A Antibodies) may due to its interaction with GABAA (show GABRg1 Antibodies) Rgamma2.

9. Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2 (show CA2 Antibodies)+)-signalling was demonstrated in differentiating human DA neurons.

10. common variants of GABRG2, RELN (show RELN Antibodies) and NRG3 (show NRG3 Antibodies) and the GABRG2-RELN (show RELN Antibodies)-PTCH1 (show PTCH1 Antibodies) interaction networks might confer altered susceptibility to Hirschsprung disease.

Mouse (Murine) gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) interaction partners

1. The results of this study suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations.

2. GABAA (show GABRg1 Antibodies) receptor (GABAAR) and the Na(+)-K(+)-2Cl(-) cotransporter (show SLC12A1 Antibodies) (NKCC1 (show SLC12A2 Antibodies)), but not the K(+)-Cl(-) cotransporter (show SLC12A4 Antibodies) (KCC2 (show SLC12A5 Antibodies)), were expressed in the terminals of the CRH (show CRH Antibodies) neurons at the median eminence (ME). In contrast, CRH (show CRH Antibodies) neuronal somata were enriched with KCC2 (show SLC12A5 Antibodies) but not with NKCC1 (show SLC12A2 Antibodies).

3. This study demonstrated that the reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA (show GABRg1 Antibodies) gamma2 R43Q mouse model of absence epilepsy.

4. Heterozygous Gabrg2(+/Q390X) KI mice are associated with a severe epileptic encephalopathy due to a dominant negative effect of the mutation, while heterozygous Gabrg2(+/-) KO mice are associated with mild absence epilepsy due to simple haploinsufficiency.

5. This investigation demonstrates striking interfacial GABAA (show GABRg1 Antibodies) receptor subunit selectivity in the native milieu, suggesting that asymmetric occupancy of heteropentameric ion channels by alkylphenol-based anesthetics is sufficient to induce modulation of activity.

6. Study shows that the down-regulation of the gamma2 subunit of postsynaptic GABAARs in NG2 (show Vcan Antibodies) cells that accompanies the postnatal switch from synaptic to extrasynaptic GABAergic transmission between interneurons and these cells in the barrel cortex

7. Dendritic spine abnormalities of Gabrg2+/- mice suggest association of functional defects in glutamatergic transmission with the established anxious-depressive phenotype of these mice

8. KIF21B (show KIF21B Antibodies) participates in the delivery of GABAAR transport vesicles into dendrites.

9. The study demonstrates the molecular and functional diversity of the GABAAR system within the mouse colon providing a framework for developing GABAAR-based therapeutics in GI disorders.

10. these findings suggest that gephyrin (show GPHN Antibodies) may be a key factor in BDNF (show BDNF Antibodies)-dependent GABAAR regulation in the amygdala.