| Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. | Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
Zhang Q, Forster-Gibson C, Bercovici E, Bernardo A, Ding F, Shen W, Langer K, Rex T, Kang JQ., Free PMC Article | 10/25/2023 |
| Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study. | Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
Amjad M, Tabassum A, Sher K, Kumar S, Zehra S, Fatima S. | 06/25/2022 |
| GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients. | GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
Riaz M, Abbasi MH, Sheikh N, Saleem T, Virk AO. | 12/11/2021 |
| In Silico Screening of Novel alpha1-GABAA Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines. | In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.
Zheng X, Wang C, Zhai N, Luo X, Liu G, Ju X., Free PMC Article | 10/30/2021 |
| Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1. | Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.
Wang GY, Luan ZL, Che NW, Yan DB, Sun XW, Zhang C, Yin J., Free PMC Article | 09/18/2021 |
| Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia. | Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
Frajman A, Maggio N, Muler I, Haroutunian V, Katsel P, Yitzhaky A, Weiser M, Hertzberg L. | 07/3/2021 |
| Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABAA) receptors. | Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA(A)) receptors.
Jayakar SS, Chiara DC, Zhou X, Wu B, Bruzik KS, Miller KW, Cohen JB., Free PMC Article | 01/23/2021 |
| Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy. | Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy.
Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Popp B, Trollmann R, Nizetic D, Smart TG., Free PMC Article | 12/19/2020 |
| A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. | A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Steudle F, Rehman S, Bampali K, Simeone X, Rona Z, Hauser E, Schmidt WM, Scholze P, Ernst M., Free PMC Article | 11/21/2020 |
| Phenotypic variability of GABRA1-related epilepsy in monozygotic twins. | Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S., Free PMC Article | 09/26/2020 |
| the GABRA1 (R214C) variant reduces channel activity and surface expression of mutant receptors, thereby contributing to the pathogenesis of genetic epileptic encephalopathy. | Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Bai YF, Chiu M, Chan ES, Axerio-Cilies P, Lu J, Huh L, Connolly MB, Guella I, Farrer MJ, Xu ZD, Liu L, Demos M, Wang YT., Free PMC Article | 06/13/2020 |
| study identified GABRA5 as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum, supporting growing evidence that defects in GABAergic neurotransmission contribute to early onset epileptic encephalopathy phenotypes. | Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y, Macdonald RL., Free PMC Article | 05/23/2020 |
| In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. | [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
Yang Y, Zhang YH, Chen JY, Ma JH, Sun D, Yang XL, Zhang J, Chen Y, Wu XR. | 03/21/2020 |
| GHRH expression was significantly increased in patients with temporal lobe epilepsy. Coimmunoprecipitation confirmed that GHRH interacted with GABAAalpha1 and GABAAbeta2 + 3. GHRH may play an important role in inhibiting seizures by activating GABAARs. | Interactions between GHRH and GABAARs in the brains of patients with epilepsy and in animal models of epilepsy.
Tang S, Luo Z, Qiu X, Zhang Y, Lu X, Huang H, Xu Z, Xu Z., Free PMC Article | 07/27/2019 |
| The GABRA1 gene SNP rs2279020 present in the intronic region has been documented to be associated with alcoholism in Korean (162 male alcohol dependents) and Taiwanese populations. | Association of serotonin and GABA pathway gene polymorphisms with alcohol dependence: A preliminary study.
Sahni S, Tickoo M, Gupta R, Vaswani M, Ambekar A, Grover T, Sharma A. | 05/11/2019 |
| 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 | Structure of a human synaptic GABA(A) receptor.
Zhu S, Noviello CM, Teng J, Walsh RM Jr, Kim JJ, Hibbs RE., Free PMC Article | 12/22/2018 |
| GBARA1 SNPs are associated with Lennox-Gastaut syndrome and juvenile myoclonic epilepsy in Indian patients. | Association of GABAA Receptor Gene with Epilepsy Syndromes.
Bhat MA, Guru SA, Mir R, Waza AA, Zuberi M, Sumi MP, Bodeliwala S, Puri V, Saxena A. | 11/10/2018 |
| Gabra1 mutations significantly reduced surface expression of GABAARs in neurons and the alpha1A295D and alpha1T10'I mutations reduces expression in HEK293 cells. In addition, the alpha1D192N and alpha1T10'I mutations significantly accelerated the decay rate of GABAergic IPSCs. The alpha1T10'I mutation also reduced the number of GABAergic synaptic contacts in neurons. | Inhibitory synapse deficits caused by familial α1 GABA(A) receptor mutations in epilepsy.
Chen X, Durisic N, Lynch JW, Keramidas A. | 07/28/2018 |
| This study showed that GABRA1 expression in lateral nucleus of amygdala and dentate gyrus, ca1 region and subiculum of hippocampus. | GABA(A) receptor subunits in the human amygdala and hippocampus: Immunohistochemical distribution of 7 subunits.
Stefanits H, Milenkovic I, Mahr N, Pataraia E, Hainfellner JA, Kovacs GG, Sieghart W, Yilmazer-Hanke D, Czech T. | 07/21/2018 |
| This study shown that the two SNPs located in the GABRA1 gene, rs4263535 (Pallele=0.002; uncorrected) and rs1157122 (Pallele=0.006; uncorrected) showed associated with Japanese individuals affected with schizophrenia. | Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia.
Balan S, Yamada K, Iwayama Y, Hashimoto T, Toyota T, Shimamoto C, Maekawa M, Takagai S, Wakuda T, Kameno Y, Kurita D, Yamada K, Kikuchi M, Hashimoto T, Kanahara N, Yoshikawa T. | 03/31/2018 |
| Rs2279020 (GABRA1, G > A) variation was associated with a decreased risk of developing VPA-resistant epilepsy. | Effects of UGT1A6 and GABRA1 on Standardized Valproic Acid Plasma Concentrations and Treatment Effect in Children With Epilepsy in China.
Feng W, Mei S, Zhu L, Yu Y, Yang W, Gao B, Wu X, Zhao Z, Fang F. | 12/2/2017 |
| The results further substantiate the role of GABRA1 in phenytoin mode of action in epilepsy. | Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.
Baghel R, Grover S, Kaur H, Jajodia A, Rawat C, Srivastava A, Kushwaha S, Agarwal R, Sharma S, Kukreti R., Free PMC Article | 10/14/2017 |
| Our study findings showed COMT polymorphism conferring risk and GABRA1 and GABRA2 polymorphism as a protective genotype for Indian male with alcohol dependence (AD) | Candidate genes for alcohol dependence: A genetic association study from India.
Malhotra S, Basu D, Khullar M, Ghosh A, Chugh N., Free PMC Article | 07/22/2017 |
| The polymorphism of rs1129647 and rs2290733 of GABRA1 has a nominal relationship with amphetamine-induced psychotic disorder . | Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population.
Zhang K, Zhao Y, Wang Q, Jiang H, Du J, Yu S, Zhao M. | 07/22/2017 |
| Study confirms GABRA1 mutations as significant contributors to the genetic etiology of both mild and severe epilepsy syndromes. GABRA1 mutations, through a possible mechanism of haploinsufficiency, cause an impairment of the GABA inhibitory function leading to a wide spectrum of epilepsy phenotypes. | Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. | 06/10/2017 |