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Treatable Metabolic Epilepsies

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Clinical Child Neurology

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Abstract

Certain inherited metabolic disorders presenting with epilepsy can be treated with disease-specific diet, vitamin, amino acid, or cofactor supplementations. In those disorders disease-specific therapy is successful to achieve good seizure control and improve long-term neurodevelopmental outcome. For this reason, intractable epilepsy with global developmental delay or history of developmental regression warrants detailed metabolic investigations for the possibility of an underlying treatable inherited metabolic disorder, which should be undertaken as first-line investigations.

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Authors and Affiliations

  1. Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada

    Theodora Bruun & Saadet Mercimek-Andrews

  2. Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada

    Saadet Mercimek-Andrews

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  1. Theodora Bruun
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  2. Saadet Mercimek-Andrews
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Correspondence to Saadet Mercimek-Andrews .

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Editors and Affiliations

  1. College of Medicine Division of Pediatric Neurology, King Saud University, Riyadh, Saudi Arabia

    Mustafa A.M. Salih

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Bruun, T., Mercimek-Andrews, S. (2020). Treatable Metabolic Epilepsies. In: Salih, M.A. (eds) Clinical Child Neurology. Springer, Cham. https://doi.org/10.1007/978-3-319-43153-6_30

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  • DOI: https://doi.org/10.1007/978-3-319-43153-6_30

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-319-43153-6

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