|
rs34757931
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with febrile seizures (FS) and MTLE-HS development.
|
28675059 |
2018 |
|
rs431905504
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
|
22279524 |
2012 |
|
rs146572471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we sequenced SLC30A3 and discovered a rare variant (c.892C > T; p.R298C) enriched in FS populations but absent in population-matched controls.
|
26647834 |
2015 |
|
rs142740233
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures.
|
24668262 |
2014 |
|
rs6746030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we performed a genetic screen of patients with febrile seizures and identified a novel missense mutation of SCN9A (W1150R).
|
31372899 |
2020 |
|
rs763256222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS<sup>+</sup>) and genetic epilepsy with febrile seizures plus (GEFS<sup>+</sup>), respectively.
|
31394368 |
2019 |
|
rs770771659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS<sup>+</sup>) and genetic epilepsy with febrile seizures plus (GEFS<sup>+</sup>), respectively.
|
31394368 |
2019 |
|
rs1555228665
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs3769955
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).
|
25344690 |
2014 |
|
rs121917748
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects.The R188W mutation was not found.
|
12165424 |
2002 |
|
rs16850331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios.
|
20041941 |
2010 |
|
rs17183814
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects.The R188W mutation was not found.
|
12165424 |
2002 |
|
rs3943809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SCN2A SNPs (rs3943809</span> and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios.
|
20041941 |
2010 |
|
rs1559193213
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886039529
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs556893466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the mosaic carriers with ~25.0% mutation of c.5768A>G/p.Q1923R had experienced simple FS; another with ~12.5% mutation of c.4847T>C/p.I1616T was asymptomatic.Their heterozygous children had PEFS+.
|
22151702 |
2012 |
|
rs1553553485
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs6432860
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)).
|
25344690 |
2014 |
|
rs3812718
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS).
|
20477842 |
2010 |
|
rs3812718
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We conclude that in the population studied, although rs3812718 polymorphism increases the susceptibility to MTLE-HS, this is not by increasing the susceptibility to FS.
|
22578703 |
2012 |
|
rs3812718
|
|
|
0.030 |
GeneticVariation |
BEFREE |
SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
|
24076350 |
2014 |
|
rs121918631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we show that the M145T mutation of a well conserved amino acid in the first transmembrane segment of domain I of the human Na(v)1.1 channel alpha-subunit cosegregates in all 12 individuals of a large Italian family affected by simple FS.
|
16326807 |
2005 |
|
rs121918782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two possibly pathogenic missense variants (p.Tyr790Phe and p.Thr140Ile) in sporadic patients (3.8%) showing typical EAF and no antecedent febrile seizures.
|
30977726 |
2019 |
|
rs7587026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587</span>026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59].
|
24014518 |
2013 |