PT  - JOURNAL ARTICLE
AU  - Anaïs Thouin
AU  - Douglas E Crompton
TI  - Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour
AID  - 10.1136/practneurol-2015-001194
DP  - 2016 Feb 01
TA  - Practical Neurology
PG  - 50--52
VI  - 16
IP  - 1
4099  - http://pn.bmj.com/content/16/1/50.short
4100  - http://pn.bmj.com/content/16/1/50.full
SO  - Pract Neurol2016 Feb 01; 16
AB  - 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.