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

Authors

  • Arvid Suls MSc,

    1. Neurogenetics Group, VIB Department of Molecular Genetics
    2. Laboratory of Neurogenetics, Institute Born-Bunge
    3. University of Antwerp, Antwerp, Belgium
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    • A.S., S.A.M., and Y.G.W. contributed equally to this work.

  • Saul A. Mullen MBBS,

    1. Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia
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    • A.S., S.A.M., and Y.G.W. contributed equally to this work.

  • Yvonne G. Weber MD,

    1. Neurological Clinic, University of Ulm, Ulm, Germany
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    • A.S., S.A.M., and Y.G.W. contributed equally to this work.

  • Kristien Verhaert MD,

    1. Division of Neurology and Child Neurology, University Hospital of Antwerp, University of Antwerp, Antwerp
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  • Berten Ceulemans PhD, MD,

    1. University of Antwerp, Antwerp, Belgium
    2. Division of Neurology and Child Neurology, University Hospital of Antwerp, University of Antwerp, Antwerp
    3. Epilepsy Center for Children and Youth, Pulderbos, Belgium
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  • Renzo Guerrini MD,

    1. Department of Neurology and Neurosurgery, Children's Hospital A. Meyer, University of Florence, Florence, Italy
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  • Thomas V. Wuttke MD,

    1. Neurological Clinic, University of Ulm, Ulm, Germany
    2. Institute of Applied Physiology, University of Ulm, Ulm, Germany
    Current affiliation:
    1. MGH-HMS Center for Nervous System Repair, Departments of Neurosurgery and Neurology, Program in Neuroscience, Harvard Medical School; Nayef Al-Rodhan Laboratories, Massachusetts General Hospital; and Department of Stem Cell and Regenerative Biology and Harvard Stem Cell Institute, Harvard University, Boston, MA 02114
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  • Alberto Salvo-Vargas,

    1. Neurological Clinic, University of Ulm, Ulm, Germany
    2. Institute of Applied Physiology, University of Ulm, Ulm, Germany
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  • Liesbet Deprez PhD,

    1. Neurogenetics Group, VIB Department of Molecular Genetics
    2. Laboratory of Neurogenetics, Institute Born-Bunge
    3. University of Antwerp, Antwerp, Belgium
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  • Lieve R. F. Claes PhD,

    1. Neurogenetics Group, VIB Department of Molecular Genetics
    2. Laboratory of Neurogenetics, Institute Born-Bunge
    3. University of Antwerp, Antwerp, Belgium
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  • Albena Jordanova PhD,

    1. Neurogenetics Group, VIB Department of Molecular Genetics
    2. Laboratory of Neurogenetics, Institute Born-Bunge
    3. University of Antwerp, Antwerp, Belgium
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  • Samuel F. Berkovic MD, FRS,

    1. Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia
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  • Holger Lerche MD,

    1. Neurological Clinic, University of Ulm, Ulm, Germany
    2. Institute of Applied Physiology, University of Ulm, Ulm, Germany
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  • Peter De Jonghe PhD, MD,

    1. Neurogenetics Group, VIB Department of Molecular Genetics
    2. Laboratory of Neurogenetics, Institute Born-Bunge
    3. University of Antwerp, Antwerp, Belgium
    4. Neurological Clinic, University of Ulm, Ulm, Germany
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  • Ingrid E. Scheffer PhD, MBBS

    Corresponding author
    1. Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia
    2. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia
    • Epilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, Banksia Street, West Heidelberg, Victoria 3081, Australia
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  • Potential conflict of interest: Nothing to report.

Abstract

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

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