|
rs1105879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The odds ratio indicated a higher risk of early post-traumatic seizure occurrence in male patients (OR 1.96, 95% CI 1.01-3.81, p = 0.043), age over 65 (OR 2.13, 95% CI 1.01-4.48), and with UGT1A6_19T > G/541A > G/552A > C double heterozygosities (OR 2.38, 95% CI 1.11-5.10, p = 0.02), though the power of the difference was between 0.54 to 0.61.
|
28841884 |
2017 |
|
rs1131692040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features.
|
29066376 |
2018 |
|
rs1135402725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients).
|
25087164 |
2015 |
|
rs115466046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.
|
21458570 |
2011 |
|
rs117067974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that patients with the KCNQ2 E515D mutation are susceptible to seizures.
|
28038823 |
2017 |
|
rs118192211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy."
|
25052858 |
2014 |
|
rs118192250
|
|
|
0.010 |
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 |
|
rs121909673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, the brain uptake of diazepam and phenytoin was assessed in a genetic mouse model of absence seizures harbouring a human GABA(A) receptor gamma2-subunit gene GABRG2 mutation (R43Q) and results were compared with those obtained during acute seizures induced by subcutaneous administration of pentylenetetrazole (PTZ; 90 mg/kg).
|
20082623 |
2010 |
|
rs121909674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study indicated that regardless of other inflammatory factors, brief heat alone increased brain excitability and induced multiple types of seizures in Gabrg2<sup>+/Q390X</sup> mice, suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations.
|
28505490 |
2017 |
|
rs121909731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of Serbian patients with HI/HA syndrome confirms the association of p.S445L and p.R221C mutations with hypoglycaemic seizures noted within the first three months of life and with subsequent risk for cognitive impairment and/or epilepsy.
|
26759084 |
2016 |
|
rs121918100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family.
|
19922332 |
2009 |
|
rs121918799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
|
23398611 |
2013 |
|
rs121918815
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The D1866Y mutation weakens this interaction, demonstrating a novel molecular mechanism leading to seizure susceptibility.
|
15525788 |
2004 |
|
rs122453114
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8.
|
11898126 |
2002 |
|
rs1301051974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation.
|
21418539 |
2011 |
|
rs132630298
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mice harboring the patient-specific C99F mutation display deficits in cognitive functions, emotionality, and social behavior, as well as reduced threshold to seizures.
|
30403997 |
2018 |
|
rs1344706
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found the risk allele (T) in ZNF804A rs1344706, compared to the non-risk allele (G), was associated with thinner cortex in the bilateral precuneus, left precentral gyrus, and several other regions, associated with a smaller cortical surface area in the left superior parietal, precuneus cortex and left superior frontal, and associated with a lower cortical volume in the left superior frontal, left precentral, and right precuneus in SZ patients.
|
25921517 |
2015 |
|
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 |
|
rs140646329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.
|
21458570 |
2011 |
|
rs1438466809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.
|
21458570 |
2011 |
|
rs1443445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous patients for the A allele in rs1443445 had earlier mean age at onset of seizures, p=0.009 (mean age of 16.6 versus 22.4years).
|
28863320 |
2017 |
|
rs150594290
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Phenotype/genotype correlation indicates that G309R is a deleterious mutation that can lead to seizures and a lethal outcome, as was demonstrated in our patient.
|
11999978 |
2002 |
|
rs1553709380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Early manifestations, observed in all patients, were developmental delay and febrile seizures, evolving to encephalopathy with profound delay, hypotonic/dyskinetic quadriparesis and intractable multiple seizure types in two patients (p.Pro27Arg, p.Asp100Tyr), and to moderate delay with milder epilepsy in the other two (p.Asp349Asn, p.Asp371Gly).
|
29668857 |
2018 |
|
rs16944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.
|
22578659 |
2012 |