Publication
Title
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Author
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.
Language
English
Source (journal)
Annals of neurology. - Boston, Mass.
Publication
Boston, Mass. : 2009
ISSN
0364-5134
Volume/pages
66:3(2009), p. 415-419
ISI
000270573700023
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 18.11.2009
Last edited 17.09.2017
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