|
rs992670
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy).
|
31570557 |
2019 |
|
rs987195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TCA haplotype (rs12483428-rs987195-rs4817027) and the AA genotype at rs4817027 conferred higher vulnerability to epilepsy in males.
|
26425555 |
2015 |
|
rs9833158
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
|
30868120 |
2019 |
|
rs982953473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AG genotype of SCN1A 3184 A-->G polymorphism was significantly higher and associated in epilepsy patients [P= 0.005; odds ratio (OR) 1.76, 95% confidence interval (CI) 1.19, 2.61], whereas A variant of SCN2A c.56 G-->A was associated with multiple drug resistance in north Indian patients with epilepsy (P= 0.03; OR 1.62, 95% CI 1.03, 2.56).
|
19694741 |
2009 |
|
rs970510
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.
|
26220383 |
2015 |
|
rs969885
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by age of onset revealed that the CC haplotype (rs969885-rs987195) was a genetic susceptibility factor for early-onset epilepsy.
|
26425555 |
2015 |
|
rs9694676
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.
|
27142828 |
2016 |
|
rs9596863
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.
|
26220383 |
2015 |
|
rs9596837
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.
|
26220383 |
2015 |
|
rs945564833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases.
|
31638258 |
2019 |
|
rs9390754
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both rs4840200-T and rs3213607-A, and the interactions between rs4840200 and rs9390754 are related to the increased risk of epilepsy risk.
|
30908586 |
2019 |
|
rs9331949
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study failed to detect an association between CLU polymorphisms (rs11136000, rs9314349, and rs9331949) and epilepsy in a Han Chinese population.
|
28972394 |
2017 |
|
rs9314349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study failed to detect an association between CLU polymorphisms (rs11136000, rs9314349, and rs9331949) and epilepsy in a Han Chinese population.
|
28972394 |
2017 |
|
rs915895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate analysis indicated that rs443198_TT and rs915895_AA genotypes both were significantly associated with hemorrhage and that an rs1109771_GG genotype was associated with epilepsy.
|
27231971 |
2017 |
|
rs893924483
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mann-Whitney U, t-tests, and Fisher's exact tests were used to determine if APOE4, BDNF Val66Met, or COMT Val158Met are associated with increased psychiatric symptomatology in people with epilepsy.
|
30909076 |
2019 |
|
rs886044717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
|
24120652 |
2014 |
|
rs886039903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.
|
31292943 |
2019 |
|
rs886039903
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, only one recurrent gain-of-function variant [NM_021032.4:c.341G>A:p.(Arg114His)] in FGF12 was found in a total of 10 patients with severe early-onset epilepsy.
|
31311986 |
2019 |
|
rs886039798
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886039469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding the BK channel-that causes epilepsy, but not paroxysmal dyskinesia, in two independent families.
|
29330545 |
2018 |
|
rs886039278
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No phenotypic rescue was obtained upon expression of epilepsy-associated <i>DEPDC5</i> mutations (p.Arg487* and p.Arg485Gln), indicating that these mutations cause a loss of function of the protein.
|
29761115 |
2018 |
|
rs880626
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p=0.001).
|
25668517 |
2015 |
|
rs879255652
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The E1483K mutation causing mild epilepsy showed no significant biophysical changes, whereas the R1872W mutation causing severe epilepsy induced clear gain-of-function biophysical changes in neuroblastoma cells.
|
30615093 |
2019 |
|
rs869320632
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing (WES) of a trio, including a child with ID and epilepsy and its healthy parents that were part of this large family, revealed a homozygous missense variant p.R53Q in the lectin mannose-binding 2-like (LMAN2L) gene.
|
26566883 |
2016 |
|
rs869312966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D).
|
30615093 |
2019 |