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Epilepsy Res. 2009 Apr;84(2-3):254-6. doi: 10.1016/j.eplepsyres.2009.01.004. Epub 2009 Feb 23.

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

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Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH 45229, United States.


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 developmental delay in an 11-year-old girl. CSF:serum glucose ratio was 45%. She has had clinical improvement on a modified Atkins diet. Our patient helps further refine the phenotype of Glut-1 deficiency and reveals a new pathologic mutation.

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