SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
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 GeneticVariation disease BEFREE Our patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of PME, in which epilepsy could be extremely severe, extending the spectrum reported in the typical AMRF syndrome. 22050460 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 Biomarker disease BEFREE The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons. 22032306 2011