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 Biomarker disease BEFREE Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism. 30254215 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE We confirmed PPP3CA as a substrate of the C2-lacking Nedd4-2 and showed that all three epilepsy-associated missense mutations of Nedd4-2 disrupted PPP3CA ubiquitination. 31357244 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy. 28942967 2017