DisGeNET - a database of gene-disease associations

SCN2A, sodium voltage-gated channel alpha subunit 2, 6326

N. diseases: 232; N. variants: 108

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Ketogenic diet as a successful early treatment modality for SCN2A mutation.

30415926

2019

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Ketogenic diet as a successful early treatment modality for SCN2A mutation.

30415926

2019

dbSNP:

rs387906686

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Ketogenic diet as a successful early treatment modality for SCN2A mutation.

30415926

2019

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

30144217

2018

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

30144217

2018

dbSNP:

rs387906686

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

30144217

2018

dbSNP:

rs794727152

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

CausalMutation

CLINVAR

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

28379373

2017

dbSNP:

rs794727152

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

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

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

CausalMutation

CLINVAR

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

28379373

2017

dbSNP:

rs796053126

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

CausalMutation

CLINVAR

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

27867041

2017

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

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

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

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

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

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

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

CausalMutation

CLINVAR

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

26648591

2016

dbSNP:

rs796053126

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

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:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

25459969

2015

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

De novo R853Q mutation of SCN2A gene and West syndrome.

25772804

2015

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

A case of recurrent encephalopathy with SCN2A missense mutation.

25457084

2015

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

26291284

2015

dbSNP:

rs387906684

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

26291284

2015

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

25459969

2015

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

A case of recurrent encephalopathy with SCN2A missense mutation.

25457084

2015

dbSNP:

rs387906685

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C3150987
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

0.800

GeneticVariation

UNIPROT

De novo R853Q mutation of SCN2A gene and West syndrome.

25772804

2015