|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, a significant association was observed between ABCB1 (C3435T) rs1045642 and risk of having epilepsy (MTLE-HS and JME pooled cohort; genotypic p-value = 0.0002; allelic p-value = 0.004).
|
24586633 |
2014 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz.
|
27391700 |
2016 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We aimed to explore the possible influence of CYP2C9 (*2, *3 and IVS8-109 A>T), CYP2C19 (*2, *3 and *17) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on phenytoin (PHT) plasma concentrations in 64 Mexican Mestizo (MM) patients with epilepsy currently treated with PHT in mono- (n=25) and polytherapy (n=39).
|
26122019 |
2016 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy.
|
25223475 |
2014 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our findings suggest that the ABCB1 rs3789243 C>T, C1236T, G2677T/A, rs6949448 C>T, and C3435T haplotypes do not contribute to response to AED treatment in epilepsy.
|
21530324 |
2011 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We included all published studies until September 2007, in which patients with responsive and unresponsive seizure disorders underwent genotyping for ABCB1 C3435T.
|
19178561 |
2009 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ABCB1 3435C>T polymorphism and type of epilepsy were associated with response to PB.
|
25846690 |
2015 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we analyzed whether the three single nucleotide polymorphisms (C1236T, G2677T/A, and C3435T) in the ABCB1 gene were associated with pharmacoresistant epilepsy in a western Chinese pediatric population.
|
21420937 |
2011 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our aim was to investigate the effect of the 1236C>T(rs1128503), 2677G>T/A(rs2032582), and 3435C>T(rs1045642) single-nucleotide polymorphisms of ABCB1 (or MDR1) on drug resistance in north Indian patients with epilepsy.
|
18812236 |
2009 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy.
|
23984379 |
2013 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ABCB1 3435C-->T single-nucleotide polymorphism (SNP) or a three-SNP haplotype containing 3435C-->T has been implicated in multidrug resistance in epilepsy in three retrospective case-control studies, but a further three have failed to replicate the association.
|
16857572 |
2006 |
|
rs1045642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A meta-analysis was conducted to assess the role of the C3435T polymorphism in drug-resistance in epilepsy.
|
24794827 |
2014 |
|
rs1047891
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the SNP rs1047891 was associated with VPA-induce HA among epilepsy patients.
|
31151073 |
2019 |
|
rs104894358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another mutant, T226R, which is associated with EA1 that is complicated by contractures and epilepsy, had no detectable effect on neuronal excitability; however, in common with R417stop, it markedly enhanced neurotransmitter release.
|
19779067 |
2010 |
|
rs10496964
|
|
C |
0.800 |
GeneticVariation |
GWASDB |
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
|
22949513 |
2012 |
|
rs10496964
|
|
C |
0.800 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
|
22949513 |
2012 |
|
rs1051740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
EPHX1 c.337T>C polymorphisms may contribute to the risk of severe CBZ-SJS/TEN by increasing the concentration of a CBZ metabolite, CBZ-10,11-epoxide, in patients with epilepsy.
|
24861996 |
2014 |
|
rs1057516064
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
|
28027978 |
2017 |
|
rs1057516085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability.
|
25740509 |
2015 |
|
rs1057518801
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All patients presented with treatment-resistant epilepsy in the first year of life, severe to profound intellectual disability, and in 2 cases (both with the variant p.Ile875Thr), diffuse polymicrogyria.
|
29466837 |
2018 |
|
rs1057518988
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057520918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy.
|
18400034 |
2008 |
|
rs1057910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype of CYP2C9 (Arg144/Cys, Ile359/Leu) and CYP2C19(*1, *2 or *3) in 134 Japanese adult patients with epilepsy treated with PHT were determined, and their serum concentrations of 5-(4-hydroxyphenyl)-5-phenylhydantoin (p-HPPH) enantiomers, being major metabolites of PHT, were measured.
|
9860067 |
1998 |
|
rs1064797102
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1064797103
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|