New GLUT-1 mutation in a child with treatment-resistant epilepsy.

Abstract excerpt

Mutations in the human glucose transporter type I (GLUT-1) gene may result in a phenotype of epilepsy, developmental delay, and movement abnormalities. We present a previously unreported mutation, c.1454 C>T (pPro485Leu) as a likely cause of intractable infantile-onset epilepsy and mild developme...

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