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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Mills, Philippa B. ; Camuzeaux, Stephane S.M. ; Footitt, Emma J. ; Mills, Kevin A. ; Gissen, Paul ; Fisher, Laura ; Das, Krishna B. ; Varadkar, Sophia M. ; Zuberi, Sameer ; McWilliam, Robert ; Stödberg, Tommy ; Plecko, Barbara ; Baumgartner, Matthias R. ; Maier, Oliver ; Calvert, Sophie ; Riney, Kate ; Wolf, Nicole I. ; Livingston, John H. ; Bala, Pronab ; Morel, Chantal F. ; Feillet, François ; Raimondi, Francesco ; Del Giudice, Ennio ; Chong, W. Kling ; Pitt, Matthew ; Clayton, Peter T.

In: Brain, 2014, vol. 137, no. 5, p. 1350-1360

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    Titre
    • Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
    Auteur
    • Mills, Philippa B.. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Camuzeaux, Stephane S.M.. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Footitt, Emma J.. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Mills, Kevin A.. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Gissen, Paul. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Fisher, Laura. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    • Das, Krishna B.. 3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
    • Varadkar, Sophia M.. 3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
    • Zuberi, Sameer. 4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK
    • McWilliam, Robert. 4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK
    • Stödberg, Tommy. 5 Neuropaediatric Unit, Astrid Lindgren Children's Hospital, 17176 Solna, Sweden
    • Plecko, Barbara. 6 Division of Child Neurology and Children's Research Centre (CRC), University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland
    • Baumgartner, Matthias R.. 7 Division of Metabolic Diseases, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland
    • Maier, Oliver. 8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen, Switzerland
    • Calvert, Sophie. 9 Neurosciences Unit, Mater Children's Hospital, South Brisbane, QLD 4101, Australia
    • Riney, Kate. 9 Neurosciences Unit, Mater Children's Hospital, South Brisbane, QLD 4101, Australia
    • Wolf, Nicole I.. 10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam, The Netherlands
    • Livingston, John H.. 11 Leeds Children's Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX, UK
    • Bala, Pronab. 12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD, UK
    • Morel, Chantal F.. 13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9, Canada
    • Feillet, François. 14 Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Paediatrics, Children's Hospital of Nancy, Allée du Morvan, Vandoeuvre les Nancy 54500, France
    • Raimondi, Francesco. 15 Department of Medical Translational Sciences, Section of Paediatrics, Università "Federico II” di Napoli, Italy
    • Del Giudice, Ennio. 16 Department of Paediatrics, University of Naples Federico II, Naples, Italy
    • Chong, W. Kling. 17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK
    • Pitt, Matthew. 18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK
    • Clayton, Peter T.. 1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • Brain, 2014, vol. 137, no. 5, p. 1350-1360. Oxford University Press
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:299582
    Summary
    Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms