Gene: SCN1B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.130 Biomarker disease BEFREE SCN1B-linked early infantile developmental and epileptic encephalopathy. 31709768 2019
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		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
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		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
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.130 Biomarker disease HPO