|
rs121909673
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure.
|
24630281 |
2014 |
|
rs4906902
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, allele frequencies of rs20317 and rs4906902 were not significantly associated with 48 rCAE patients in comparison to >500 controls matched for ethnicity and ancestral origin.
|
22765836 |
2012 |
|
rs71651682
|
|
|
0.020 |
GeneticVariation |
BEFREE |
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
|
22303015 |
2012 |
|
rs121909673
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Finally, these findings suggest that similar to the γ2(R82Q) mutation, the CAE-associated α6(R46W) mutation could cause neuronal disinhibition and thus increase susceptibility to generalized seizures through a reduction of αβγ and αβδ receptor function and expression.
|
21930603 |
2011 |
|
rs25409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report that maternal transmission of a GABRB3 signal peptide variant (P11S), previously implicated in childhood absence epilepsy, is associated with autism.
|
19935738 |
2011 |
|
rs25409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family.
|
18514161 |
2008 |
|
rs71651682
|
|
|
0.020 |
GeneticVariation |
BEFREE |
An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family.
|
18514161 |
2008 |
|
rs4906902
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE.
|
17215107 |
2007 |
|
rs10462087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the HCN1 rs10462087 CC+CT genotype was lower in patients with childhood absence epilepsy (CAE) than controls (P = .047).
|
29047147 |
2018 |
|
rs1053074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of rs1053074 G allele was lower in the childhood absence epilepsy (CAE) group than that in the healthy controls (28.4% vs 36.2%, p = 0.01, OR = 0.70[0.53-0.93]).
|
25874548 |
2015 |
|
rs12729701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of rs12729701 G allele and AG+GG genotypes was lower in the CAE group than that in the healthy controls (21.2% vs 28.4%, p = 0.01, OR = 0.74[0.59-0.94] and 36.3% vs 48.1%, p = 0.01, OR = 0.83[0.72-0.96], respectively).
|
25874548 |
2015 |
|
rs1570624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Variant R294H was identified in two further probands who had a subtype of JME developing from childhood absence epilepsy.
|
25625532 |
2015 |
|
rs371775791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD) within a population of patients with childhood absence epilepsy (CAE).
|
25347071 |
2014 |
|
rs373363000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, these findings suggest that similar to the γ2(R82Q) mutation, the CAE-associated α6(R46W) mutation could cause neuronal disinhibition and thus increase susceptibility to generalized seizures through a reduction of αβγ and αβδ receptor function and expression.
|
21930603 |
2011 |
|
rs8044363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, another cSNP rs8044363 was predicted to be connected directly with CAE in a Bayesian network.
|
17156077 |
2007 |
|
rs9934839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Case-control comparisons and the transmission disequilibrium test (TDT) both supported a coding SNP (cSNP) rs9934839 (R603R) in exon 9 as being close related to CAE.
|
17156077 |
2007 |
|
rs267606697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Some CAE-specific SNPs (e.g., G773D) coexist with SNPs also found in controls (R788C); therefore, the effect of these polymorphisms were studied.
|
15888660 |
2005 |