Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
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.
Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
Arvid
A
Suls
Saul A
SA
Mullen
Yvonne G
YG
Weber
Kristien
K
Verhaert
Berten
B
Ceulemans
Renzo
R
Guerrini
Thomas V
TV
Wuttke
Alberto
A
Salvo-Vargas
Liesbet
L
Deprez
Lieve R F
LR
Claes
Albena
A
Jordanova
Samuel F
SF
Berkovic
Holger
H
Lerche
Peter
P
De Jonghe
Ingrid E
IE
Scheffer
D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D055423:Diet, Ketogenic; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D016896:Treatment Outcome
D051272:Glucose Transporter Type 1