Neuropediatrics 2013; 44(04): 235-236
DOI: 10.1055/s-0033-1336015
Letter to the Editor
Georg Thieme Verlag KG Stuttgart · New York

Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome

Joerg Klepper
1   Department of Pediatrics and Neuropediatrics, Childrens' Hospital Aschaffenburg, Aschaffenburg, Germany
› Institutsangaben
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Publikationsverlauf

17. September 2012

08. Januar 2013

Publikationsdatum:
12. März 2013 (online)

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Abstract

Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.