The goal of this proposal are to systematically study a cohort of neuroglycopenia patients to determine if there is a phenotypic correlation with specific defects in the GLUT-1 gene, a glucose transported that has been found to have point or nonsense mutations in 5 or 17 patients so far. In addition, GLUT-1 karyotypic rearrangements have found in two patients. These findings indicate that mutations which result in a loss of GLUT-1 activity are linked to the onset of the phenotype.
The first Aim will be carry out genotypic analysis on the existing patients and on new patients as they become available at a rate of approximately 4/year. The focus of Aim 2 will be an extensive characterization of the phenotype of existing and new patients.
Aim 3 will be to develop GLUT-1 deficient mice by homologous recombination and to carry out a neuropathological analysis of these animals.
| Akman, Cigdem Inan; Yu, Julia; Alter, Aliza et al. (2016) Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment. J Pediatr 171:220-6 |
| Akman, Cigdem Inan; Provenzano, Frank; Wang, Dong et al. (2015) Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Res 110:206-15 |
| Pearson, Toni S; Akman, Cigdem; Hinton, Veronica J et al. (2013) Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 13:342 |
| Pong, Amanda W; Geary, Brianna R; Engelstad, Kris M et al. (2012) Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia 53:1503-10 |
| Yang, Hong; Wang, Dong; Engelstad, Kristin et al. (2011) Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol 70:996-1005 |
| Pons, Roser; Collins, Abbie; Rotstein, Michael et al. (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 25:275-81 |
| Levy, Brynn; Wang, Dong; Ullner, Paivi M et al. (2010) Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol Genet Metab 100:129-35 |
| Akman, Cigdem I; Engelstad, Kristin; Hinton, Veronica J et al. (2010) Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency. Ann Neurol 67:31-40 |
| Rotstein, Michael; De Vivo, Darryl C (2010) Childhood absence epilepsy as a manifestation of GLUT1 deficiency. Ann Neurol 67:272-3; author reply 273 |
| Rotstein, Michael; Engelstad, Kristin; Yang, Hong et al. (2010) Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol 68:955-8 |
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