EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
A mutation in GABRB3 associated with Dravet syndrome.
|
28544625 |
2017 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
|
28053010 |
2017 |
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 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
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 |
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 |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
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 |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
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 |
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 |
SusceptibilityMutation
|
phenotype |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Autism Spectrum Disorders
|
0.540 |
AlteredExpression
|
disease |
BEFREE |
The underlying mechanism of the aberrant expression of GABRB3 gene in ASD patients should be investigated in other biological levels.
|
30074174 |
2018 |
Autism Spectrum Disorders
|
0.540 |
Biomarker
|
disease |
CTD_human |
Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging.
|
22037176 |
2011 |
Autism Spectrum Disorders
|
0.540 |
Biomarker
|
disease |
BEFREE |
Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea.
|
19430570 |
2009 |
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 |
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 |
Biomarker
|
disease |
MGD |
|
|
|
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 |
AlteredExpression
|
disease |
BEFREE |
Previous studies reported that SNPs at the 5' regulatory region of GABRB3 could regulate GABRB3 gene expression and associated with childhood absence epilepsy (CAE).
|
25025424 |
2014 |
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 |