Condition: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
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.