Gene: SCN2A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926

2019
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926

2019
dbSNP: rs387906686
rs387906686
SCN2A
0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926

2019
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217

2018
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217

2018
dbSNP: rs387906686
rs387906686
SCN2A
0.800 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217

2018
dbSNP: rs794727152
rs794727152
SCN2A
A 0.800 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs794727152
rs794727152
SCN2A
A 0.800 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017
dbSNP: rs796053126
rs796053126
SCN2A
A 0.800 CausalMutation CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041

2017
dbSNP: rs796053126
rs796053126
SCN2A
A 0.800 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs387906686
rs387906686
SCN2A
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs796053126
rs796053126
SCN2A
A 0.800 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs796053126
rs796053126
SCN2A
A 0.800 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. 25459969

2015
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT De novo R853Q mutation of SCN2A gene and West syndrome. 25772804

2015
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT A case of recurrent encephalopathy with SCN2A missense mutation. 25457084

2015
dbSNP: rs387906684
rs387906684
SCN2A
0.800 GeneticVariation UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. 25459969

2015
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT A case of recurrent encephalopathy with SCN2A missense mutation. 25457084

2015
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT De novo R853Q mutation of SCN2A gene and West syndrome. 25772804

2015
dbSNP: rs387906685
rs387906685
SCN2A
0.800 GeneticVariation UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015