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 journalArticle

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

Fingerprint

Absence Epilepsy
Facilitative Glucose Transport Proteins
Mutation
Ketogenic Diet
Genetic Counseling
Genes
Proteins
Therapeutics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., ... 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

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. / Suls, Arvid; Mullen, Saul A.; Weber, Yvonne G.; Verhaert, Kristien; Ceulemans, Berten; Guerrini, Renzo; Wuttke, Thomas V.; Salvo-Vargas, Alberto; Deprez, Liesbet; Claes, Lieve R F; Jordanova, Albena; Berkovic, Samuel F.; Lerche, Holger; De Jonghe, Peter; Scheffer, Ingrid E.

In: Annals of Neurology, Vol. 66, No. 3, 2009, p. 415-419.

Research output: Contribution to journalArticle

Suls, A, Mullen, SA, Weber, YG, Verhaert, K, Ceulemans, B, Guerrini, R, Wuttke, TV, Salvo-Vargas, A, Deprez, L, Claes, LRF, Jordanova, A, Berkovic, SF, Lerche, H, De Jonghe, P & Scheffer, IE 2009, 'Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1', Annals of Neurology, vol. 66, no. 3, pp. 415-419. https://doi.org/10.1002/ana.21724
Suls, Arvid ; Mullen, Saul A. ; Weber, Yvonne G. ; Verhaert, Kristien ; Ceulemans, Berten ; Guerrini, Renzo ; Wuttke, Thomas V. ; Salvo-Vargas, Alberto ; Deprez, Liesbet ; Claes, Lieve R F ; Jordanova, Albena ; Berkovic, Samuel F. ; Lerche, Holger ; De Jonghe, Peter ; Scheffer, Ingrid E. / Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. In: Annals of Neurology. 2009 ; Vol. 66, No. 3. pp. 415-419.
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