Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Abstract

Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two mutations arose de novo, and two were familial. These findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.

• Authors: Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes, Albena Jordanova, Samuel F Berkovic, Holger Lerche, Peter De Jonghe, Ingrid E Scheffer
• Journal: Annals of neurology (Ann Neurol) Vol. 66 Issue 3 Pg. 415-9 (Sep 2009) ISSN: 1531-8249 [Electronic] United States
• PMID: 19798636 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glucose Transporter Type 1

Topics

• Age of Onset
• Child
• Child, Preschool
• Diet, Ketogenic
• Epilepsy, Absence (diagnosis, diet therapy, genetics)
• Female
• Glucose Transporter Type 1 (deficiency, genetics, metabolism)
• Humans
• Male
• Mutation, Missense (genetics)
• Treatment Outcome