EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
UNIPROT |
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
|
18514161 |
2008 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
UNIPROT |
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
|
22303015 |
2012 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
|
26950270 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
Autism Spectrum Disorders
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families.
|
15952184 |
2005 |
Autism Spectrum Disorders
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
Our finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to ASD in the Korean population.
|
17230033 |
2006 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One 15q11-q13 locus encodes the GABA(A) receptor β3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established.
|
19935738 |
2011 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
|
22303015 |
2012 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE.
|
17215107 |
2007 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy.
|
31435640 |
2019 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE.
|
18514161 |
2008 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE).
|
17215107 |
2007 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a previous study of our group, an association between the GABA(A) receptor beta3 subunit (GABRB3) gene and CAE was shown.
|
16835263 |
2006 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity.
|
16302874 |
2005 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits alpha5 (GABRA5) and beta3 (GABRB3) in a Chinese population.
|
15498372 |
2004 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE.
|
20550555 |
2010 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).
|
20308251 |
2010 |
Absence Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The object of the present study was to test association between CAE and the genes encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits alpha 5 (GABRA5) and beta 3 (GABRB3) located on the long arm of chromosome 15 (15q11-q13).
|
10509183 |
1999 |
Depressive disorder
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression.
|
22082659 |
2011 |