Condition: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
rs142986731
in
SLC2A1
gene and
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
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 22282645
2012 GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
PMID 25982116
2015 A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
PMID 25108116
2014 Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.