Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122394
rs398122394
0.710 GeneticVariation BEFREE The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs. 26138355

2016

dbSNP: rs398122394
rs398122394
G 0.710 CausalMutation CLINVAR

dbSNP: rs1555952078
rs1555952078
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555954752
rs1555954752
AAGATCTC 0.700 GeneticVariation CLINVAR

dbSNP: rs267608421
rs267608421
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267608618
rs267608618
A 0.700 GeneticVariation CLINVAR

dbSNP: rs913477149
rs913477149
C 0.700 GeneticVariation CLINVAR

dbSNP: rs387906684
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

dbSNP: rs387906684
rs387906684
0.020 GeneticVariation BEFREE One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms. 19786696

2009

dbSNP: rs796052621
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

dbSNP: rs1060499553
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

dbSNP: rs370114048
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

dbSNP: rs587777308
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

dbSNP: rs74315390
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

dbSNP: rs760270633
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

dbSNP: rs796052491
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

dbSNP: rs796053134
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

dbSNP: rs1057520644
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

dbSNP: rs242948
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

dbSNP: rs13397210
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

dbSNP: rs760543
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

dbSNP: rs10482672
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

dbSNP: rs267608472
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

dbSNP: rs267608493
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

dbSNP: rs2963155
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