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 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157

2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation 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 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