rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
20830593
2011
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
21204808
2010
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
20574033
2010
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
20129935
2010
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
20621801
2010
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
19630075
2009
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
19798636
2009
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
BEFREE
We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S ) that decreased glucose transport but did not affect cation permeability.
18451999
2008
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S ) that decreased glucose transport but did not affect cation permeability.
18451999
2008
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.810
GeneticVariation
UNIPROT
GLUT-1 deficiency without epilepsy--an exceptional case.
14605501
2003
rs121909739
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
T
0.810
CausalMutation
CLINVAR
rs1553155986
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
GLUT1 DEFICIENCY SYNDROME 1
0.800
GeneticVariation
UNIPROT
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
30197081
2018
rs1553155986
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
GLUT1 DEFICIENCY SYNDROME 1
0.800
GeneticVariation
UNIPROT
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
25982116
2015
rs397514564
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800
GeneticVariation
UNIPROT
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
25982116
2015
rs1553155986
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
GLUT1 DEFICIENCY SYNDROME 1
0.800
GeneticVariation
UNIPROT
Crystal structure of the human glucose transporter GLUT1.
24847886
2014
rs397514564
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800
GeneticVariation
UNIPROT
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
22282645
2012
rs397514564
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800
GeneticVariation
UNIPROT
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
23280796
2012
rs864309514
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
0.800
GeneticVariation
UNIPROT
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.
22492876
2012
rs121909740
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.800
GeneticVariation
UNIPROT
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
20830593
2011
rs202060209
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.800
GeneticVariation
UNIPROT
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
20830593
2011
rs267607060
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.800
GeneticVariation
UNIPROT
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
20830593
2011
rs267607061
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.800
GeneticVariation
UNIPROT
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
20830593
2011
rs387907312
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
CHOREOATHETOSIS/SPASTICITY, EPISODIC
0.800
GeneticVariation
UNIPROT
EFNS guidelines on diagnosis and treatment of primary dystonias.
20482602
2011
rs864309514
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
0.800
GeneticVariation
UNIPROT
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
21791420
2011
rs121909740
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
DYSTONIA 18 (disorder)
0.800
GeneticVariation
UNIPROT
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
20129935
2010