SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Convulsive Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.310 GeneticVariation phenotype BEFREE The results described herein provided an insight into the early diagnosis of GLUT1-DS, including unexplained paroxysmal abnormal eye movements, apneic/cyanotic attacks, and convulsive seizures in infancy, as well as uncommon paroxysmal events (ataxia, atonia, and motor paralysis) in childhood. 25487684 2015
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.310 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.310 Biomarker phenotype CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.310 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998