Title
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
VIB DMG - Neurogenetics Group
Department of Biomedical Sciences
Primary and interdisciplinary care Antwerp (ELIZA)
Publication type
article
Publication
Boston, Mass.,
Subject
Human medicine
Source (journal)
Annals of neurology. - Boston, Mass.
Volume/pages
66(2009):3, p. 415-419
ISSN
0364-5134
ISI
000270573700023
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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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