Article
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Current neurology and neuroscience reports - 1 Apr 2013
Pearson Toni S, Akman Cigdem, Hinton Veronica J, Engelstad Kristin, De Vivo Darryl C
Abstract excerpt
Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.