rs796052621
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that KCNQ2 R198Q is a model for a new subclass of KCNQ2 variants causing infantile spasms and encephalopathy, without preceding neonatal seizures.
|
27861786 |
2017 |
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 |
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 |
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 |
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 |
rs760270633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using whole exome sequencing, we detected the novel mutation c.127G>A (p.Gly43Ser) in a patient with Lennox-Gastaut syndrome, and a recurrent mutation c.709C>T (p.Arg237Trp) in a patient with West syndrome.
|
26611353 |
2016 |
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 |
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 |
rs1057520644
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a male infant who suffered from WS and X-linked T-B+NK- severe combined immunodeficiency (X-SCID) with a missense mutation of the IL2RG gene (c.202G>A, p.Glu68Lys).
|
24534054 |
2015 |
rs242948
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment.
|
25954915 |
2015 |
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 |
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 |
rs2963155
|
|
|
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 |
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 |
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 |
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 |
rs11872992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.
|
18461507 |
2007 |
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 |
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 |
rs387906684
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms.
|
19786696 |
2009 |
rs1555952078
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555954752
|
|
AAGATCTC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|