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 		0.410 GeneticVariation disease BEFREE In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation. 27605359 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease HPO