Condition: DYSTONIA 18 (disorder)
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.