Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
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.
Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK.
Anaïs
A
Thouin
Neurology Department, Northern Health, Epping, Victoria, Australia.
Douglas E
DE
Crompton
D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics*; D020821:Dystonic Disorders / Q000209:etiology*; D004832:Epilepsy, Absence / Q000209:etiology*; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D055815:Young Adult
D051272:Glucose Transporter Type 1
Epilepsy, Absence; Epilepsy, Generalised; Genetic Testing; Glucose Transporter Type 1 Deficiency Syndrome; Ketogenic Diet