title: New GLUT-1 mutation in a child with treatment-resistant epilepsy.
abstract: 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.
authors.affiliation: Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH 45229, United States. laurel.malinowski@cchmc.org
authors.forename: Laurel
authors.initials: L
authors.lastname: Slaughter
authors.forename: George
authors.initials: G
authors.lastname: Vartzelis
authors.forename: Todd
authors.initials: T
authors.lastname: Arthur
mesh_terms: D002648:Child; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human