Abnormal social behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of brainstem morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
Absence Epilepsy
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
|
16835263 |
2006 |
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 |
Biomarker
|
disease |
CTD_human |
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
|
18514161 |
2008 |
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 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Absence Seizure Disorder
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
|
18514161 |
2008 |
Absence Seizures
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Absence Seizures
|
0.110 |
GeneticVariation
|
phenotype |
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 |
Accidental Falls
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Aggressive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Akinetic Petit Mal
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
|
18514161 |
2008 |
Albinism, Oculocutaneous
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The 15q11.2-q13.1 deletion contains genes critical for Prader-Willi syndrome, the Angelman syndrome causing genes UBE3A and ATP10A/C, and several non-imprinted genes: GABRB3 and GABRA5 (both encoding subunits of GABA A receptor), GOLGA6L2, HERC2 and OCA2 (associated with oculocutaneous albinism II).
|
23124039 |
2013 |