Variant: rs142986731 

    present in Gene: SLC2A1
    present in Chromosome: 1
    Position on Chromosome: 42931142
    Alleles of this Variant: G/A

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.