Disease: Abnormal behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE De novo loss-of-function mutations in SCN1A are the main cause of Dravet syndrome, a catastrophic encephalopathy characterized by recurrent early-life febrile seizures, a number of other afebrile seizure types that are often refractory to treatment, and behavioral abnormalities including social deficits, motor dysfunction, and cognitive impairment. 31402621 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE Our findings suggest that SCN1A mutation leads to changes in the dopamine system that may contribute to the behavioral abnormalities in DS. 26841829 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 GeneticVariation phenotype BEFREE These results suggest that SCN1A mutations may confer susceptibility to psychiatric disorders in addition to variable epileptic seizures. 17507202 2007