Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI

Authors

  • Patrick W. Carney,

    1. Epilepsy Research Centre, Austin Health, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia
    2. Brain Research Institute, Florey Neuroscience Institutes, Heidelberg, Victoria, Australia
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  • A. Simon Harvey,

    1. Children's Neuroscience Centre and Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia
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  • Samuel F. Berkovic,

    1. Epilepsy Research Centre, Austin Health, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia
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  • Graeme D. Jackson,

    1. Brain Research Institute, Florey Neuroscience Institutes, Heidelberg, Victoria, Australia
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  • Ingrid E. Scheffer

    Corresponding author
    1. Children's Neuroscience Centre and Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia
    • Epilepsy Research Centre, Austin Health, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia
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Address correspondence to Ingrid E. Scheffer, Melbourne Brain Centre, 245 Burgundy Street, Heidelberg, Vic. 3084, Australia. E-mail: scheffer@unimelb.edu.au

Summary

The benign occipital epilepsies of childhood include Panayiotopoulos and Gastaut syndromes; a third syndrome, idiopathic photosensitive occipital epilepsy may also begin in childhood or adolescence. We describe siblings with occipital epilepsy characterized by refractory, frequent, brief visual seizures and normal magnetic resonance imaging (MRI). Electroencephalography (EEG) with functional MRI (fMRI) supports localization of interictal epileptiform activity to the occipital lobes. Our hypothesis is that the siblings share a genetic focal epilepsy arising from a localized occipital network. Although they share many features of Gastaut syndrome, their refractory ongoing seizures in adolescence is unusual and likely due to underlying genetic determinants.

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