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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)415-419
Number of pages5
JournalAnnals of Neurology
Volume66
Issue number3
DOIs
Publication statusPublished - 2009

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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