The glucose transporter type 1 (Glut1) syndromes

Epilepsy Behav. 2019 Feb:91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31.


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".

Keywords: Childhood absence epilepsy; Early onset absence epilepsy; Glut1 deficiency syndrome; Paroxysmal exertion-induced dyskinesia; SLC2A1; Spastic paraparesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / diet therapy
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Diet, Ketogenic / methods
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / diet therapy
  • Dystonic Disorders / genetics
  • Epilepsies, Myoclonic / diagnosis
  • Epilepsies, Myoclonic / diet therapy
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Partial / diagnosis
  • Epilepsies, Partial / diet therapy
  • Epilepsies, Partial / genetics
  • Epilepsy / diagnosis
  • Epilepsy / diet therapy
  • Epilepsy / genetics*
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / diet therapy
  • Epilepsy, Absence / genetics
  • Glucose Transporter Type 1 / genetics*
  • Humans
  • Monosaccharide Transport Proteins / deficiency
  • Monosaccharide Transport Proteins / genetics
  • Movement Disorders / diagnosis
  • Movement Disorders / diet therapy
  • Movement Disorders / genetics*
  • Mutation / genetics*


  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human

Supplementary concepts

  • Dystonia 18
  • Glut1 Deficiency Syndrome