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
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Read the full text or download the PDF:
Other content recommended for you
- It is all in the history, or is it?
- Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency
- Unravelling of the paroxysmal dyskinesias
- Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
- Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome
- Seizures and movement disorders: phenomenology, diagnostic challenges and therapeutic approaches
- Investigating adults with early-onset epilepsy and intellectual or physical disability
- Recent advances in the molecular genetics of epilepsy
- Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
- Neurodegenerative disorders and metabolic disease