SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Idiopathic generalized epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 Biomarker disease GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 GeneticVariation disease BEFREE GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. 22282645 2012
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 Biomarker disease GENOMICS_ENGLAND Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008