rs398122394
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1555952078
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555954752
|
|
AAGATCTC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs267608421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs267608618
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs913477149
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587777308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy.
|
26918889 |
2016 |
rs104894743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press].
|
12376946 |
2002 |
rs796052491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy.
|
26918889 |
2016 |
rs1060499553
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy.
|
26918889 |
2016 |
rs267608472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk.
|
22678952 |
2012 |
rs267608493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk.
|
22678952 |
2012 |
rs796053134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs.
|
26138355 |
2016 |
rs370114048
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs.
|
26138355 |
2016 |
rs74315390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs.
|
26138355 |
2016 |
rs387906684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms.
|
19786696 |
2009 |
rs387906684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Similarity of our case and one Japanese case of infantile spasm indicated that this E1211K mutation is important as possible etiology of IS.
|
25459969 |
2015 |
rs11872992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.
|
18461507 |
2007 |
rs398122394
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs.
|
26138355 |
2016 |
rs6877893
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60).
|
22728713 |
2012 |
rs4912905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60).
|
22728713 |
2012 |
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome.
|
22033938 |
2011 |
rs13397210
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in high linkage disequilibrium, rs13397210 and rs760543, were significantly associated with IS under genotype model (p = 0.015).
|
25268096 |
2014 |
rs760543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in high linkage disequilibrium, rs13397210 and rs760543, were significantly associated with IS under genotype model (p = 0.015).
|
25268096 |
2014 |
rs10482672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs, rs10482672 and rs2963155, showed nominal associations with IS (P=0.018, OR=1.89, 95% CI=1.11-3.22, for rs10482672; P=0.04, OR=1.70, 95% CI=1.03-2.81 for rs2963155) under the assumption of a dominant model.
|
22728713 |
2012 |