|
rs587777308
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo GABRA1 mutations in Ohtahara and West syndromes.
|
26918889 |
2016 |
|
rs587777308
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
|
27521439 |
2016 |
|
rs886039373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
|
27353043 |
2016 |
|
rs587777308
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
rs1559144583
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1561587715
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs211037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs.
|
29894917 |
2018 |
|
rs211037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptibility to febrile seizure (FS) and idiopathic generalized epilepsy (IGE), however results have been inconclusive.
|
23140995 |
2013 |
|
rs635311
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To examine the molecular basis for the association of the A867D allele with IGE, we characterized wild-type (WT) and AE3(fl)-A867D in transfected human embryonic kidney (HEK)-293 cells.
|
19605733 |
2009 |
|
rs635311
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our subsequent population-based association study of the Ala867Asp substitution polymorphism revealed a significant increase of the 867Asp variant in 366 unrelated German IGE patients compared with 183 German control subjects (chi(2)=5.37, df=1, P=0.021).
|
12399075 |
2002 |
|
rs796053048
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation.
|
31720899 |
2020 |
|
rs121918771
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By mutation screening of the SCN1A gene, we identified for the first time a case of two missense mutations in cis (p.[Arg1525Gln;Thr297Ile]) in all affected individuals of an Italian family showing GEFS+ and idiopathic generalized epilepsy (IGE).
|
28951233 |
2017 |
|
rs2486253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015).
|
25008907 |
2015 |
|
rs142740233
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE).
|
24928908 |
2014 |
|
rs3219151
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh.
|
25088614 |
2014 |
|
rs548424453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE).
|
24928908 |
2014 |
|
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 |
|
rs3943809
|
|
|
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 |
|
rs3789243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations with drug resistance were found in males (p = 0.004 for rs3789243 and p = 0.0007 for 2677T/A>G) but not females, and in patients with localization-related (p = 0.006 for rs3789243 and p = 0.01 for 2677T/A>G) but not idiopathic-generalized epilepsy.
|
19450124 |
2009 |
|
rs1801545
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004).
|
18625963 |
2008 |
|
rs4906902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present population-based association study tested whether the C-allele of rs4906902 confers susceptibility to CAE or other common syndromes of idiopathic generalized epilepsy (IGE) in a German sample.
|
17215107 |
2007 |
|
rs1799971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results provide no support for association of A118G with either IAE or IGE and also exclude association in our sample of a small-to-moderate gene effect with IGE from a large part of OPRM1.
|
17054695 |
2006 |
|
rs1883415
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A tentative haplotypic association of the two-marker haplotype (rs1883415-TNR) covering the 5'-regulatory region in IGE patients (chi2=11.65, d.f.=3, P=0.009) warrants further replication studies.
|
16406321 |
2006 |
|
rs1130183
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes.
|
15725393 |
2005 |
|
rs41307846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
|
16023832 |
2005 |