Ann Neurol 2009 Sep; 66(3):415-9

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

Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.

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.

PMID: 19798636 [PubMed - as supplied by publisher]

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