Disease: Episodic Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 Biomarker disease BEFREE We report 21 patients with SCN2A-associated EA, of which 9 are unpublished cases. 30928199 2019
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 GeneticVariation disease BEFREE Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390 2016
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 GeneticVariation disease BEFREE Considered alongside previous reports of episodic ataxia in SCN2A mutation-positive patients, our case further illustrates the genetic heterogeneity of episodic ataxia. 27328862 2016
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 CausalMutation disease CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 GeneticVariation disease BEFREE SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 Biomarker disease HPO