|
Langer-Giedion Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In our study, GABRA1 965 C > A mutation and 15 A > G polymorphism gene may play an important role in modulating the drug efficacy in LGS patients.
|
29785705 |
2018 |
|
Lennox-Gastaut syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In our study, GABRA1 965 C > A mutation and 15 A > G polymorphism gene may play an important role in modulating the drug efficacy in LGS patients.
|
29785705 |
2018 |
|
Neurodevelopmental Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A).
|
28837158 |
2018 |
|
Congestive heart failure
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Prostaglandin signalling through upregulated PTGER3 activates JNK which reduces GAD1 and GABRA1 expression in the PVN, and contributes to sympathoexcitation in CHF.
|
27439062 |
2017 |
|
Alcohol Use Disorder
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Additionally, 106 of the 1,812 CpGs were mapped to 93 genes (e.g., AUD-associated genes GRIK3, GRIN2C, and GABRA1) with differential expression in postmortem PFC of male AUD subjects.
|
26763658 |
2016 |
|
West Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that de novo GABRA1 mutations can cause early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome.
|
26918889 |
2016 |
|
Williams Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.
|
27613244 |
2016 |
|
Recurrent seizure
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Diplotype analysis of GABRA1 variants revealed association of rs12658835;rs7735530 (AG/AG) (P-valuecorrected = 0.034, OR = 3.75, 95% CI = 1.36-11.05) and rs12658835;rs7735530;rs7732641;rs2279020 (AGCA/AGCA) (P-valuecorrected = 0.035, OR = 2.48, 95% CI = 0.96-6.41) with recurrent seizures.
|
27245092 |
2016 |
|
Infantile Spasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome.
|
26918889 |
2016 |
|
Drug Resistant Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population.
|
26189305 |
2015 |
|
Hypoalbuminemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients.
|
24482035 |
2014 |
|
Malignant tumor of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Additionally, we found that ectopic overexpression of GABRA1 in colon cancer cell lines resulted in strong inhibition of cell growth.
|
22038115 |
2012 |
|
Colorectal Carcinoma
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer.
|
22038115 |
2012 |
|
Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesised that γ-aminobutyric acid A receptor 1 (GABRA1) is a miR-155 target, and studied the correlation between miR-155 up-regulation and the GABRA1 protein in cultured glioblastoma cells by miRNA silencing.
|
22470130 |
2012 |
|
Adult Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesised that γ-aminobutyric acid A receptor 1 (GABRA1) is a miR-155 target, and studied the correlation between miR-155 up-regulation and the GABRA1 protein in cultured glioblastoma cells by miRNA silencing.
|
22470130 |
2012 |
|
Childhood Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesised that γ-aminobutyric acid A receptor 1 (GABRA1) is a miR-155 target, and studied the correlation between miR-155 up-regulation and the GABRA1 protein in cultured glioblastoma cells by miRNA silencing.
|
22470130 |
2012 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Additionally, we found that ectopic overexpression of GABRA1 in colon cancer cell lines resulted in strong inhibition of cell growth.
|
22038115 |
2012 |
|
Glioblastoma Multiforme
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We hypothesised that γ-aminobutyric acid A receptor 1 (GABRA1) is a miR-155 target, and studied the correlation between miR-155 up-regulation and the GABRA1 protein in cultured glioblastoma cells by miRNA silencing.
|
22470130 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer.
|
22038115 |
2012 |
|
Drug abuse
|
0.010 |
Biomarker
|
group |
BEFREE |
Three genes (COMT, DRD4, and GABRA1) were associated with METH abuse, nine (ARRB2, BDNF, CYP2D6, GLYT1, GSTM1, GSTP1, PDYN, PICK1, and SLC22A3) with METH dependence, two (AKT1 and GABRG2) with METH abuse/dependence, and four (DTNBP1, OPRM1, SNCA, and SOD2) with METH psychosis.
|
19219857 |
2009 |
|
Nonorganic psychosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Three genes (COMT, DRD4, and GABRA1) were associated with METH abuse, nine (ARRB2, BDNF, CYP2D6, GLYT1, GSTM1, GSTP1, PDYN, PICK1, and SLC22A3) with METH dependence, two (AKT1 and GABRG2) with METH abuse/dependence, and four (DTNBP1, OPRM1, SNCA, and SOD2) with METH psychosis.
|
19219857 |
2009 |
|
Dystonia Disorders
|
0.010 |
GeneticVariation
|
group |
LHGDN |
Screening of GABA(A)-receptor gene mutations in primary dystonia.
|
17880575 |
2007 |
|
Epilepsy, Temporal Lobe
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Enhancing GABA(A) receptor alpha 1 subunit levels in hippocampal dentate gyrus inhibits epilepsy development in an animal model of temporal lobe epilepsy.
|
17079662 |
2006 |
|
Juvenile osteochondrosis of tibial tubercle
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this study, we present a comprehensive 5000-rad radiation hybrid map of a 40-cM region on equine chromosome 4 (ECA4) that contains quantitative trait loci for equine osteochondrosis.
|
16978184 |
2006 |
|
Osteochondrosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this study, we present a comprehensive 5000-rad radiation hybrid map of a 40-cM region on equine chromosome 4 (ECA4) that contains quantitative trait loci for equine osteochondrosis.
|
16978184 |
2006 |