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Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy

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Abstract

We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected included NPRL3 (3 patients, all related), TSC2 (3 patients), KCNH1, CHRNA4, SPTAN1, DEPDC5, SCN2A, ARX, SCN1A, DLG4, and ST5. One patient had ring chromosome 20, one a 7.17p12 duplication, and one a 15q13 deletion. In six patients, suspected epileptogenic lesions were identified on brain MRI that were thought to be unrelated to the genetic finding. A specific medical therapy choice was allowed due to genetic diagnosis in three patients who did not undergo surgery. Obtaining a molecular diagnosis may dramatically alter management in pediatric patients with drug-resistant focal epilepsy. Genetic testing should be incorporated as part of standard investigations in the pre-surgical work-up of pediatric patients with drug-resistant focal epilepsy.

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Acknowledgements

This study was supported by funding from the Fonds de Recherches du Québec—Santé (282228, 295639)

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Authors and Affiliations

  1. Division of Child Neurology, Department of Pediatrics, Montreal Children’s Hospital, McGill University Health Centre, Montreal, QC, Canada

    Sarah Alsubhi, Elisabeth Simard Tremblay, Myriam Srour & Kenneth A. Myers

  2. Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

    Saoussen Berrahmoune, Roy W. R. Dudley, Myriam Srour & Kenneth A. Myers

  3. Division of Neurosurgery, Department of Pediatric Surgery, Montreal Children’s Hospital, McGill University Health Centre, Montreal, QC, Canada

    Roy W. R. Dudley

  4. Department of Neurology & Neurosurgery, Montreal Children’s Hospital, McGill University Health Centre, 1001 Boulevard Décarie, Montreal, QC, H4A 3J1, Canada

    Elisabeth Simard Tremblay, Myriam Srour & Kenneth A. Myers

  5. Division of Child Neurology, Department of Pediatrics, University of Sherbrooke, Sherbrooke, QC, Canada

    David Dufresne

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  1. Sarah Alsubhi
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  2. Saoussen Berrahmoune
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  3. Roy W. R. Dudley
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  4. David Dufresne
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  5. Elisabeth Simard Tremblay
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  6. Myriam Srour
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  7. Kenneth A. Myers
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Correspondence to Kenneth A. Myers.

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Alsubhi, S., Berrahmoune, S., Dudley, R.W.R. et al. Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy. J Neurol 271, 2503–2508 (2024). https://doi.org/10.1007/s00415-023-12174-3

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  • DOI: https://doi.org/10.1007/s00415-023-12174-3

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