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.
Suls
Arvid
A
Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
Mullen
Saul A
SA
Weber
Yvonne G
YG
Verhaert
Kristien
K
Ceulemans
Berten
B
Guerrini
Renzo
R
Wuttke
Thomas V
TV
Salvo-Vargas
Alberto
A
Deprez
Liesbet
L
Claes
Lieve R F
LR
Jordanova
Albena
A
Berkovic
Samuel F
SF
Lerche
Holger
H
De Jonghe
Peter
P
Scheffer
Ingrid E
IE
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