Gene: SCN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906684
rs387906684
SCN2A
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
SCN2A
0.020 GeneticVariation BEFREE One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms. 19786696

2009
dbSNP: rs370114048
rs370114048
SCN2A
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: rs796053134
rs796053134
SCN2A
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