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Title
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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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Annals of neurology. - Boston, Mass.
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Publication
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Boston, Mass.
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2009
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ISSN
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0364-5134
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Volume/pages
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66
:3
(2009)
, p. 415-419
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ISI
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000270573700023
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Full text (Publisher's DOI)
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