Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour

Practical Neurology
Anaïs Thouin, Douglas E Crompton

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.

References

Oct 18, 2001·Annals of Neurology·K BrockmannD C De Vivo
Oct 3, 2009·Annals of Neurology·Arvid SulsIngrid E Scheffer
Feb 5, 2010·Brain : a Journal of Neurology·Wilhelmina G LeenMichél A Willemsen
Oct 31, 2012·Epilepsia·Todor ArsovIngrid E Scheffer
Jan 3, 2013·Annals of Neurology·Todor ArsovIngrid E Scheffer

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Citations

Aug 5, 2018·Epilepsy & Behavior : E&B·Henner Koch, Yvonne G Weber

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