Variant: rs1553156053 

    present in Gene: SLC2A1
    present in Chromosome: 1
    Position on Chromosome: 42929652
    Alleles of this Variant: G/A

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).

rs1553156053 in SLC2A1 gene and Movement Disorders PMID 18577546 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

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

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

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

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

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

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

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

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

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

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

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 26598494 2015 The clinical and genetic heterogeneity of paroxysmal dyskinesias.

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

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

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

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.