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

2009; Wiley; Volume: 66; Issue: 3 Linguagem: Inglês

10.1002/ana.21724

1531-8249

Arvid Suls, Saul A. Mullen, Yvonne G. Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V. Wuttke, Alberto Salvo‐Vargas, Liesbet Deprez, Lieve Claes, Albena Jordanova, Samuel F. Berkovic, Holger Lerche, Peter De Jonghe, Ingrid E. Scheffer,

Ion Transport and Channel Regulation

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.