Article
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
European journal of human genetics : EJHG - 1 Jun 2017
Willemsen Michèl A, Vissers Lisenka Elm, Verbeek Marcel M, van Bon Bregje W, Geuer Sinje, Gilissen Christian, Klepper Joerg, Kwint Michael P, Leen Wilhelmina G, Pennings Maartje, Wevers Ron A, Veltman Joris A, Kamsteeg Erik-Jan
Abstract excerpt
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1,...
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