Disease: Movement Disorders ×
Source: ALL
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 SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR SCN1A mutations and epilepsy. 15880351 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR SCN1A mutations and epilepsy. 15880351 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
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 CausalMutation group CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
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 GeneticVariation 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 Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010