Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

• Anastasia Minenkova,

  Roles Data curation, Resources, Validation, Writing – original draft, Writing – review & editing

  Affiliation Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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• Erwin E. W. Jansen,

  Roles Investigation, Resources, Validation, Writing – review & editing

  Affiliation Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands

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• Jessie Cameron,

  Roles Formal analysis, Resources, Writing – review & editing

  Affiliations Metabolic Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Pediatric Laboratory Medicine, University of Toronto, Toronto, Ontario, Canada

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• Rob Barto,

  Roles Formal analysis, Resources, Validation, Writing – review & editing

  Affiliation Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands

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• Thomas Hurd,

  Roles Investigation, Resources, Validation, Writing – review & editing

  Affiliation Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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• Lauren MacNeil,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Metabolic Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

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• Gajja S. Salomons,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands

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• Saadet Mercimek-Andrews

  Roles Conceptualization, Data curation, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: saadet@ualberta.ca

  Affiliations Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada, Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada, The Hospital for Sick Children, Toronto, Ontario, Canada

  https://orcid.org/0000-0001-8396-6764

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