Variant: rs776095655

present in Gene: SLC2A1 present in Chromosome: 1 Position on Chromosome: 42927684 Alleles of this Variant: C/A;T

rs776095655 in SLC2A1 gene and Broad-based gait PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests 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.

rs776095655 in SLC2A1 gene and Esotropia PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic 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.

rs776095655 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1 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.

rs776095655 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE PMID 21865127 2011 """Benign"" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency."

PMID 22704013 2012 Allelic variations of glut-1 deficiency syndrome: the chinese experience.

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 26193382 2015 From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

PMID 9335548 1997 Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function.

rs776095655 in SLC2A1 gene and Global developmental delay 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.

rs776095655 in SLC2A1 gene and Movement Disorders PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic 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.

rs776095655 in SLC2A1 gene and Seizures PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic 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.