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

doi:10.1002/ana.21724

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

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	415-419
Number of pages	5
Journal	Annals of Neurology
Volume	66
Issue number	3
DOIs	https://doi.org/10.1002/ana.21724
Publication status	Published - 2009

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., & Scheffer, I. E. (2009). Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology, 66(3), 415-419. https://doi.org/10.1002/ana.21724

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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.",

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AU - Suls, Arvid

AU - Mullen, Saul A.

AU - Weber, Yvonne G.

AU - Verhaert, Kristien

AU - Ceulemans, Berten

AU - Guerrini, Renzo

AU - Wuttke, Thomas V.

AU - Salvo-Vargas, Alberto

AU - Deprez, Liesbet

AU - Claes, Lieve R F

AU - Jordanova, Albena

AU - Berkovic, Samuel F.

AU - Lerche, Holger

AU - De Jonghe, Peter

AU - Scheffer, Ingrid E.

PY - 2009

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AB - 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.

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

Abstract

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