Variant: rs121909739 

    present in Gene: SLC2A1
    present in Chromosome: 1
    Position on Chromosome: 42929242
    Alleles of this Variant: C/T

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.

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.