Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Abstract excerpt

Glucose transporter type 1 (Glut1) deficiency syndrome (Glut1 DS, OMIM: #606777) is characterized by infantile seizures, acquired microcephaly, developmental delay, hypoglycorrhachia (CSF glucose <40 mg/dL), and decreased erythrocyte glucose uptake (56.1 +/- 17% of control). Previously, we reported two patients with a mild Glut1 deficiency phenotype associated with a heterozygous GLUT1 T295M mutation and normal...

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