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 		0.010 GeneticVariation disease BEFREE A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. 29422393 2018