Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation group CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059 1997
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 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 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
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 GeneticVariation group CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation 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 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
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 GeneticVariation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
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 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 Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
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 GeneticVariation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
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 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
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 Biomarker group HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 Biomarker group CTD_human Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. 12907273 2003
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 CausalMutation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008