Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471

2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471

2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863

2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863

2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR SCN1A mutations and epilepsy. 15880351

2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915

2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR SCN1A mutations and epilepsy. 15880351

2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915

2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211

2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211

2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094

2000
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094

2000
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059

1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059

1997