Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease BEFREE SCN1B-linked early infantile developmental and epileptic encephalopathy. 31709768 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Our report is the first set of siblings with homozygosity for the p.Arg89Cys variant in SCN1B and further implicates biallelic mutations in this gene as a cause of epileptic encephalopathy mimicking Dravet syndrome. 31465153 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Here, we confirm the recessive inheritance of 2 novel SCN1B mutations in 5 children from 3 families with developmental epileptic encephalopathy. 28218389 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO