Gene: SLC2A1

Alternate names for this Gene: CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN

Gene Summary: This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: solute carrier family 2 member 1

Type of Gene: protein-coding

rs776095655 in SLC2A1 gene and Broad-based gait PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

rs387907312 in SLC2A1 gene and CHOREOATHETOSIS/SPASTICITY, EPISODIC PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

PMID 25108116 2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

rs796053272 in SLC2A1 gene and Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly PMID 25108116 2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

rs121909739 in SLC2A1 gene and DYSTONIA 18 (disorder) PMID 18451999 2008 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.

PMID 19630075 2009 GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

PMID 20621801 2010 Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

PMID 21204808 2010 Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

PMID 14605501 2003 GLUT-1 deficiency without epilepsy--an exceptional case.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 20830593 2011 Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.

PMID 20574033 2010 Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

PMID 18451999 2008 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.

PMID 18451999 2008 GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

PMID 25108116 2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

PMID 10980529 2000 Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

rs1553156053 in SLC2A1 gene and Dysmorphic features PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

rs142986731 in SLC2A1 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 22282645 2012 GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

PMID 25982116 2015 A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

PMID 25108116 2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

rs1553155982 in SLC2A1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs776095655 in SLC2A1 gene and Esotropia PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

rs121909738 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1 PMID 30197081 2018 Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

PMID 25982116 2015 A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

PMID 20574033 2010 Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

PMID 19901175 2009 Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.

PMID 24847886 2014 Crystal structure of the human glucose transporter GLUT1.

PMID 10980529 2000 Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

PMID 15622525 2005 Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 10227690 1999 Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.

PMID 12325075 2002 Imaging the metabolic footprint of Glut1 deficiency on the brain.

PMID 11136715 2001 Autosomal dominant transmission of GLUT1 deficiency.

PMID 11603379 2001 Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 25108116 2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

PMID 17052934 2007 Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

rs121909739 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE PMID 27351150 2016 Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.

PMID 11076005 2000 Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

PMID 18451999 2008 GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

PMID 26615598 2016 CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 23340081 2014 The many faces of Glut1 deficiency syndrome.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 22704013 2012 Allelic variations of glut-1 deficiency syndrome: the chinese experience.

PMID 11477212 2001 Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.

PMID 19630075 2009 GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 16217704 2005 Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 19996082 2009 Glut1 deficiency and alternating hemiplegia of childhood.

PMID 18403583 2008 GLUT1 deficiency without epilepsy: yet another case.

PMID 23448551 2013 Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

PMID 23106342 2012 Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 21865127 2011 """Benign"" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency."

PMID 9335548 1997 Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function.

PMID 28018440 2016 Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.

PMID 24080273 2013 Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.

rs776095655 in SLC2A1 gene and Global developmental delay PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

rs794729221 in SLC2A1 gene and Glut1 Deficiency Syndrome PMID 18606970 2008 Paroxysmal movement disorders in GLUT1 deficiency syndrome.

rs200895692 in SLC2A1 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs200895692 in SLC2A1 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1413339367 in SLC2A1 gene and Movement Disorders PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

rs1553156053 in SLC2A1 gene and Overgrowth PMID 26304067 2015 Mutational and functional analysis of Glucose transporter I deficiency syndrome.

PMID 26336901 2016 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

PMID 24963779 2014 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 23306390 2013 The role of SLC2A1 in early onset and childhood absence epilepsies.

PMID 23280796 2012 Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

PMID 26537434 2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

PMID 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

PMID 19798636 2009 Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

PMID 23443458 2013 Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 1714544 1991 Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

PMID 21791420 2011 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 22492876 2012 An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

PMID 12752470 2003 Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 20687207 2010 Glut1 deficiency: inheritance pattern determined by haploinsufficiency.

PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 10766892 2000 A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.

rs6657798 in SLC2A1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs776095655 in SLC2A1 gene and Seizures PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

rs12718444 in SLC2A1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.