SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 Biomarker disease BEFREE We established that oral CBD attenuated the time-dependent increase in seizure burden and improved TLE-associated motor comorbidities of epileptic rats in the RISE-SRS model without affecting gait. 30588604 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. 18550699 2008