Article
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis.
Molecular genetics and metabolism - 1 Jun 2010
Levy Brynn, Wang Dong, Ullner Paivi M, Engelstad Kristin, Yang Hong, Nahum Odelia, Chung Wendy K, De Vivo Darryl C
Abstract excerpt
Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. Approximately 93%...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.