Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Haploinsufficiency of SHANK3 causes Phelan-McDermid syndrome and autism, whereas duplication of the same gene leads to SHANK3 duplication syndrome, a disorder characterized by neuropsychiatric phenotypes including hyperactivity and bipolar disorder as well as epilepsy. 30696942 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 AlteredExpression disease BEFREE Immunofluorescence, immunohistochemistry, and western blot analysis were used to locate and determine the expression of SHANK3 in the temporal neocortex of patients with epilepsy, and in the hippocampus and temporal lobe cortex of rats in a pilocarpine-induced epilepsy model. 27592227 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. 27554343 2016