SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Generalized seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 GeneticVariation disease BEFREE Here, we investigated the possible role of SLC2A1 variants in GGE patients with eyelid myoclonia (EM) which is a rare generalized seizure type associated with drug resistance and cognitive dysfunction. 30361188 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 Biomarker disease CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 Biomarker disease CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 Biomarker disease CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998