|
rs913477149
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs398122394
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122394
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with 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 |
|
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 |
|
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 |
|
rs267608618
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
rs267608421
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
rs1555954752
|
|
AAGATCTC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555952078
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
rs11872992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms.
|
18461507 |
2007 |