DisGeNET - a database of gene-disease associations

SCN1A, sodium voltage-gated channel alpha subunit 1, 6323

N. diseases: 287; N. variants: 533

Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 ×

Variant: rs121918744 ×

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:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

21864321

2011

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

20117752

2010

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

20600615

2010

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

19339291

2009

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.

19464195

2009

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

19522081

2009

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

17927801

2008

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

18413471

2008

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

17507202

2007

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

17928445

2007

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.

15715999

2005

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

15525788

2004

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

12576172

2003

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

12919402

2003

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

11524484

2001

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

11254445

2001

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.

11756608

2001

dbSNP:

rs121918744

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000