rs1024611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs1024611 AA genotype was associated with a greater susceptibility to drug-resistant epilepsy (p=0.008; OR=2.51, 95% CI: 1.33-4.72), adjusted for age, sex, and seizure type, and the association remained significant after Bonferroni correction for multiple testing (p<0.05).
|
23996681 |
2013 |
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The ABCB1 3435C>T genotype does not have a major role in determining the efficacy of seizure control with initial AED therapy.
|
19453704 |
2009 |
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
There was no association of the ABCB1 3435C-->T polymorphism, the three-SNP haplotype, or any gene-wide tag SNP with time to first seizure after starting drug therapy, time to 12-month remission, or time to drug withdrawal due to unacceptable side-effects or to lack of seizure control.
|
16857572 |
2006 |
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The association of ABCB1-C3435T with risk of drug-resistance was significant in the overall population (T allele vs. C allele, OR: 1.21; 95%CI: 1.06-1.39; P=0.006) and in Caucasians, adults, groups treated with various drugs, a '>10 seizures in a year' group based on resistance and a '≥2 years seizure free' group based on response subgroup analysis.
|
24794827 |
2014 |
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed.
|
22239287 |
2012 |
rs1364926780
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'.
|
22565165 |
2012 |
rs1404008939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'.
|
22565165 |
2012 |
rs2273697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'.
|
22565165 |
2012 |
rs3740066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'.
|
22565165 |
2012 |
rs72653762
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569540688
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587776625
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514452
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs11001109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comparing Kaplan-Meier curves, rs11001109 (ADK) rare allele homozygosity and rs9444348 (NT5E) heterozygosity were significantly associated with shorter time to first seizure and an increased seizure rate 3 years post-TBI.
|
26040919 |
2015 |
rs886041116
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1131692272
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
|
19128417 |
2009 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
|
26224730 |
2015 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
|
20370816 |
2010 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
|
22784480 |
2012 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
|
17068770 |
2007 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
|
22371912 |
2012 |
rs121912707
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
|
29056246 |
2017 |
rs121912708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|