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

Annals of Neurology - Tập 66 Số 3 - Trang 415-419 - 2009
Arvid Suls1,2,3,4, Saul A. Mullen1,5, Yvonne G. Weber1,6, Kristien Verhaert7, Berten Ceulemans7,8,4, Renzo Guerrini9, Thomas V. Wuttke10,6, Alberto Salvo‐Vargas10,6, Liesbet Deprez2,3,4, Lieve Claes2,3,4, Albena Jordanova2,3,4, Samuel F. Berkovic5, Holger Lerche10,6, Peter De Jonghe2,3,6,4, Ingrid E. Scheffer5,11
1A.S., S.A.M., and Y.G.W. contributed equally to this work.
2Laboratory of Neurogenetics, Institute Born-Bunge
3Neurogenetics Group, VIB Department of Molecular Genetics
4University of Antwerp, Antwerp, Belgium
5Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia
6Neurological Clinic, University of Ulm, Ulm, Germany
7Division of Neurology and Child Neurology, University Hospital of Antwerp, University of Antwerp, Antwerp
8Epilepsy Center for Children and Youth, Pulderbos, Belgium
9Department of Neurology and Neurosurgery, Children's Hospital A. Meyer, University of Florence, Florence, Italy
10Institute of Applied Physiology, University of Ulm, Ulm, Germany
11Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Melbourne, Australia

Tóm tắt

AbstractAbsence 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

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