|
rs121913500
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The IDH1 R132H mutation and p53 overexpression (>40%) were associated with seizures at presentation.
|
28073027 |
2017 |
|
rs1333040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also evaluated whether the rs1333040 polymorphism was associated with prototypical angio-architectural features of BAVMs (such as nidus size, venous drainage pattern and Spetzler-Martin grading) and with the occurrence of seizures and bleeding.
|
23606732 |
2013 |
|
rs1333040
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The occurrence of bleeding was associated with the TT genotype and T allele of rs1333040, while the presence of seizures appeared associated with the GG genotype of rs7865618.
|
24820060 |
2014 |
|
rs1392120633
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Activation of the p.Arg1872Trp mutation in adult mice was sufficient to generate seizures and death, indicating that successful therapy will require lifelong treatment.
|
30601941 |
2019 |
|
rs1392120633
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Activation of the p.Arg1872Trp mutation in adult mice was sufficient to generate seizures and death, indicating that successful therapy will require lifelong treatment.
|
31288536 |
2020 |
|
rs202151337
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Heterozygous Scn8a(N1768D/+) mice exhibit seizures and SUDEP, confirming the causality of the de novo mutation in the proband.
|
25227913 |
2015 |
|
rs202151337
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A knock-in mouse model carrying the patient mutation p.Asn1768Asp (N1768D) reproduces many features of the disorder, including spontaneous seizures and SUDEP.
|
28676574 |
2017 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Children with MTHFR C677T or A1298C polymorphisms who had normal neurological examination without a history of seizure were included in the study.
|
31734877 |
2020 |
|
rs397507444
|
|
|
0.020 |
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 |
|
rs398122403
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline.
|
26149920 |
2015 |
|
rs398122403
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389).
|
29179256 |
2018 |
|
rs4986791
|
|
|
0.020 |
GeneticVariation |
BEFREE |
As seizures and depression are well known neuropsychiatric syndromes in systemic lupus erythematosus (SLE) the aim of the study was to investigate whether TLR4 gene polymorphism 1196C/T (rs4986791, Thr399Ile) was a candidate for susceptibility of development of neuropsychiatric systemic lupus erythematosus (NPSLE).
|
24243911 |
2013 |
|
rs4986791
|
|
|
0.020 |
GeneticVariation |
BEFREE |
TLR 4 T399I and TLR9 -1486 T>C showed a positive association with seizures and photosensitivity, respectively.
|
25182168 |
2015 |
|
rs57095329
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data indicate that the rs57095329 polymorphism in the promoter region of miR-146a is involved in the genetic susceptibility to DRE and the seizures frequency.
|
25891929 |
2015 |
|
rs57095329
|
|
|
0.020 |
GeneticVariation |
BEFREE |
miR-146a rs57095329 polymorphism might be involved in the genetic susceptibility to drug-resistance and seizure severity in childhood epilepsy patients.
|
27310665 |
2016 |
|
rs796053228
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Activation of the p.Arg1872Trp mutation in adult mice was sufficient to generate seizures and death, indicating that successful therapy will require lifelong treatment.
|
30601941 |
2019 |
|
rs796053228
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Activation of the p.Arg1872Trp mutation in adult mice was sufficient to generate seizures and death, indicating that successful therapy will require lifelong treatment.
|
31288536 |
2020 |
|
rs1006737
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several genetic studies have implicated the CACNA1C SNP rs1006737 in bipolar disorder (BD) and schizophrenia (SZ) pathology.
|
23437284 |
2013 |
|
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 |
|
rs1057518443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
|
rs1057524792
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
|
rs1064793923
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures.
|
27659738 |
2016 |
|
rs1085307920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Scn2a(Q54) transgenic mice have a mutation in Scn2a that results in spontaneous, adult-onset partial motor seizures, and mice carrying the Kcnq2-V182M mutation exhibit increased susceptibility to induced seizures, and rare spontaneous seizures as adults.
|
21156207 |
2011 |
|
rs10974620
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With correction for multiple comparisons, genotypes at SNP rs10974620 (SLC1A1) were significantly associated with time to first seizure across the full 3-year follow-up (seizure rates: 77.1% minor allele homozygotes, 24.8% heterozygotes, 16.6% major allele homozygotes; p = 0.001).
|
27153812 |
2016 |
|
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 |