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The glucose transporter type 1 (Glut1) syndromes.

Authors :
Koch, Henner
Weber, Yvonne G.
Source :
Epilepsy & Behavior. Feb2019, Vol. 91, p90-93. 4p.
Publication Year :
2019

Abstract

Abstract The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood–brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia. Recently, milder variants have also been described. The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown. A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect. Despite the rarity of these diseases, the Glut1 syndromes are of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms especially if it is started as early as possible. The present article summarizes the clinical features of Glut1 syndromes and discusses the underlying genetic mutations, including the available data on functional tests as well as the genotype–phenotype correlations. This article is part of the Special Issue "Individualized Epilepsy Management: Medicines, Surgery and Beyond". Highlights • SLC2A1 codes the glucose transporter type 1 (Glut1). • Glut1 is expressed at the blood–brain barrier. • Glut1 is associated with a broad spectrum of epilepsies and movement disorders. • Additional diagnostics are lumbar puncture and genetic analysis. • Ketogenic diet is the precision therapy for Glut1 defects. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
15255050
Volume :
91
Database :
Academic Search Index
Journal :
Epilepsy & Behavior
Publication Type :
Academic Journal
Accession number :
135532317
Full Text :
https://doi.org/10.1016/j.yebeh.2018.06.010