Disease: Epilepsy, Familial Mesial Temporal Lobe ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968848
Disease: Epilepsy, Familial Mesial Temporal Lobe
Epilepsy, Familial Mesial Temporal Lobe 		0.010 GeneticVariation disease BEFREE We identified a DEPDC5 nonsense mutation (c.918C>G; p.Tyr306*) in a family with two affected members, clinically classified as FMTLE. 26216793 2015