|
rs28934906
|
|
|
0.710 |
GeneticVariation |
BEFREE |
QTc prolongation was associated with p.(Thr158Met) mutation versus the remaining six common mutations (hazard ratio 4.1, 95% confidence interval 1.4-12.0; p=0.01) but not with age, RSSS score, seizures, breathing abnormalities, or SSRIs.
|
31797351 |
2019 |
|
rs550423482
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine.
|
24645144 |
2014 |
|
rs74315390
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice.
|
18483067 |
2008 |
|
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 |
|
rs121908225
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation.
|
18313928 |
2008 |
|
rs121908225
|
|
|
0.040 |
GeneticVariation |
BEFREE |
As the S218L mutation enhances the propensity for cortical spreading depression (CSD), we postulate a role for CSD not only in hemiplegic migraine but also in early seizures and cerebral oedema after trivial head trauma.
|
19520699 |
2009 |
|
rs121908225
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years.
|
28750589 |
2018 |
|
rs121908225
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice.
|
30649209 |
2019 |
|
rs121918622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We used a R1648H knock-in mouse model (Scn1a<sup>RH/+</sup>) with mild/asymptomatic phenotype to dissociate the effects of seizures and of the mutation per se.
|
30659983 |
2019 |
|
rs121918622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Knock-in mice heterozygous for the R1648H mutation (Scn1a(RH/+)) have decreased thresholds to induced seizures and infrequent spontaneous seizures, whereas homozygotes display spontaneous seizures and premature lethality.
|
21156207 |
2011 |
|
rs121918622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood.
|
28373025 |
2017 |
|
rs121918622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice.
|
31758544 |
2019 |
|
rs211037
|
|
|
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 |
|
rs211037
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients.
|
29785705 |
2018 |
|
rs211037
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure.
|
29379546 |
2018 |
|
rs211037
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with epilepsy.
|
20356767 |
2010 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our study suggests that heterozygous variants of MTHFR (C677T and A1298C) gene are associated with poor seizure control in Pakhtun population of KP despite the fact that plasma level of carbamazepine were found within the therapeutic range.
|
30442198 |
2018 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure.
|
31734877 |
2020 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The well-studied C677T variant in the methylenetetrahydrofolate reductase (MTHFR) enzyme is a biologically plausible genetic risk factor for seizures or epilepsy.
|
21787169 |
2011 |
|
rs1130183
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes.
|
15725393 |
2005 |
|
rs1130183
|
|
|
0.020 |
GeneticVariation |
BEFREE |
It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy.
|
23965030 |
2013 |
|
rs121913500
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We sought to assess the influence of 1p19q co-deletion, IDH1-R132H positivity, and radiological variables on seizure activity in LGO patients.
|
24986208 |
2014 |