Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608421
rs267608421
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs398122394
rs398122394
0.010 GeneticVariation BEFREE The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs. 26138355

2016

dbSNP: rs398122854
rs398122854
ARX
0.010 GeneticVariation BEFREE A similar variant c.81C>G (p.(Y27*)), has previously been described in two affected cousins with early-onset infantile spasms, leading to reinitiation of ARX mRNA translation resulting in an N-terminal truncated protein. 26306640

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: rs587783200
rs587783200
ARX
0.010 GeneticVariation BEFREE We report two male patients with early-onset infantile spasms in whom a novel c.34G>T (p.(E12*)</span>) variant was identified in the ARX gene. 26306640

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: 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: 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

dbSNP: rs4912905
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

dbSNP: rs6877893
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

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

2009