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Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
Author(s) -
Suls Arvid,
Mullen Saul A.,
Weber Yvonne G.,
Verhaert Kristien,
Ceulemans Berten,
Guerrini Renzo,
Wuttke Thomas V.,
SalvoVargas Alberto,
Deprez Liesbet,
Claes Lieve R. F.,
Jordanova Albena,
Berkovic Samuel F.,
Lerche Holger,
De Jonghe Peter,
Scheffer Ingrid E.
Publication year - 2009
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21724
Subject(s) - glut1 , epilepsy , glucose transporter , ketogenic diet , glucose transporter type 1 , childhood absence epilepsy , medicine , inheritance (genetic algorithm) , gene , genetics , serotonin transporter , genetic heterogeneity , biology , endocrinology , phenotype , psychiatry , genotype , insulin
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. Ann Neurol 2009;66:415–419