Condition: GLUT1 DEFICIENCY SYNDROME 1
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.