SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Absence Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 GeneticVariation phenotype BEFREE Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. 29741207 2018
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 Biomarker phenotype BEFREE We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood. 21366555 2011
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 Biomarker phenotype CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 CausalMutation phenotype CLINVAR
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.420 Biomarker phenotype HPO