Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014