×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
Developmental regulation of rat brain/Hep G2 glucose transporter gene expression.
2710134
1989
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity.
2348864
1990
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CTD_human
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
9462754
1998
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
9462754
1998
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
BEFREE
A GLUT-1 defect results in the Glucose-Transporter-Protein Syndrome (GTPS ), characterized by infantile epilepsy, developmental delay, and acquired microcephaly.
10323476
1999
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
BEFREE
These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1 .
10227690
1999
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
Association of stomatin (band 7.2b) with Glut1 glucose transporter.
10562431
1999
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
BEFREE
We refer to this condition as the Glut-1 Deficiency Syndrome (Glut-1 DS ).
10980529
2000
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CTD_human
We refer to this condition as the Glut-1 Deficiency Syndrome (Glut-1 DS ).
10980529
2000
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
BEFREE
Glucose transporter type 1 deficiency syndrome (Glut1DS ): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.
11477212
2001
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CTD_human
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
11603379
2001
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
BEFREE
To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS ).
12752470
2003
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS , OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia.
15622525
2005
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
Glut-1 deficiency syndrome (Glut-1 DS , OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia.
16497725
2006
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
Glut-1 deficiency syndrome (Glut-1 DS , OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia.
16497725
2006
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
GLUT1 deficiency syndrome (GLUT1DS , OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain.
17718830
2007
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CTD_human
The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777).
17489814
2007
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
In this study, the protein products of the Glut1DS -associated GLUT1 missense mutations, S66F , R126C , and T295M , were characterized using the Glut1 -green fluorescent protein (GFP) fusion expressed in CHO cells.
17052934
2007
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777).
17489814
2007
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
Glucose transporter type 1 (Glut1) deficiency syndrome (Glut1 DS, OMIM: #606777) is characterized by infantile seizures, acquired microcephaly, developmental delay, hypoglycorrhachia (CSF glucose <40 mg/dL), and decreased erythrocyte glucose uptake (56.1 +/- 17% of control).
18614966
2008
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
CausalMutation
disease
CLINVAR
Paroxysmal movement disorders in GLUT1 deficiency syndrome.
18606970
2008
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
Biomarker
disease
CLINGEN
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
18451999
2008
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
AlteredExpression
disease
BEFREE
Emphasis is placed on transgenic GLUT1 overexpression and null mutant model systems, the latter serving as surrogates for the human GLUT1 deficiency syndrome .
19690067
2009
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.800
GeneticVariation
disease
BEFREE
GLUT1 deficiency syndrome (GLUT1DS ) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission.
20221955
2009