Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
0.020 GeneticVariation disease BEFREE Our results suggest that variants of SCN1B and SCN2B may not be common causes of DS according to our data. 30921204 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
0.020 Biomarker disease BEFREE In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. 23195492 2012