The expanding phenotype of GLUT1-deficiency syndrome.

Abstract excerpt

Transport of glucose from the bloodstream across the blood-brain barrier to the central nervous system is facilitated by glucose transport protein type 1 (GLUT1), the first member of the solute carrier family 2 (SLC2). Heterozygous mutations in the GLUT1/SLC2A1 gene, occurring de novo or inherited as an autosomal dominant trait, result in cerebral energy failure and a clinical condition termed GLUT1-deficiency...

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