Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059 1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group 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
0.410 CausalMutation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group BEFREE This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy.[Published with video sequences]. 24776920 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group 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
0.410 GeneticVariation group CLINVAR SCN1A mutations and epilepsy. 15880351 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group 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
0.410 CausalMutation group 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
0.410 CausalMutation group CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059 1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 Biomarker group HPO
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR SCN1A mutations and epilepsy. 15880351 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 Biomarker group CTD_human Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. 12907273 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 GeneticVariation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.410 CausalMutation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011