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Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724.

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

Author information

1
Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.

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.

PMID:
19798636
DOI:
10.1002/ana.21724
[Indexed for MEDLINE]

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