Disease: Infantile Spasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3887898
Disease:
Infantile Spasm 		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
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3887898
Disease:
Infantile Spasm 		0.020 GeneticVariation BEFREE One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms. 19786696 2009
dbSNP: rs370114048
rs370114048
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3887898
Disease:
Infantile Spasm 		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
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3887898
Disease:
Infantile Spasm 		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