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Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour
  1. Anaïs Thouin1,
  2. Douglas E Crompton2
  1. 1Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK
  2. 2Neurology Department, Northern Health, Epping, Victoria, Australia
  1. Correspondence to Associate Professor Douglas E Crompton, Neurology Department, Northern Health, 185 Cooper Street, Epping 3076 Australia; douglas.crompton{at}unimelb.edu.au

Abstract

For some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intractable infantile seizures, microcephaly, developmental delay and hypoglycorrhachia in the presence of a normal plasma glucose. It is caused by mutations in the SLC2A1 gene, coding for GluT1, leading to a reduction in the available glucose transporter sites; it responds to the ketogenic diet. Recently, a wider spectrum of seizure syndromes have been associated with functional impairment of glucose transport caused by SLC2A1 mutations. These syndromes include 12% of early-onset absence epilepsy and 1% of genetic generalised epilepsies, where they represent a risk allele contributing to polygenic inheritance. We describe a young man with early-onset absence seizures and paroxysmal exercise-induced dyskinesia. While this syndrome is uncommon, it is recognisable and its diagnosis allows consideration of treatment with the ketogenic diet. We discuss the role of genetic testing in early-onset absence seizures and genetic generalised epilepsy.

  • Glucose Transporter Type 1 Deficiency Syndrome
  • Epilepsy, Absence
  • Epilepsy, Generalised
  • Genetic Testing
  • Ketogenic Diet

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