DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×

Gene: SCN1A-AS1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Silencer region of a chalcone synthase promoter contains multiple binding sites for a factor, SBF-1, closely related to GT-1.

1893099

1991

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

12083760

2002

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

12083760

2002

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

11940708

2002

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

12821740

2003

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

12566275

2003

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

14504318

2003

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

14738421

2004

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

16210358

2005

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

17054684

2006

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

17054685

2006

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

17054684

2006

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

17054685

2006

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

16458823

2006

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

17561957

2007

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy.

18554359

2008

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

A screening test for the prediction of Dravet syndrome before one year of age.

18076640

2008

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

A catalog of SCN1A variants.

18804930

2009

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

A catalog of SCN1A variants.

18804930

2009

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

18930999

2009

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

19589774

2010

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.

21371021

2011

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Genotype-phenotype associations in SCN1A-related epilepsies.

21248271

2011