Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Identifieur interne : 001876 ( Ncbi/Merge ); précédent : 001875; suivant : 001877Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Auteurs : Philippa B. Mills [Royaume-Uni] ; Stephane S. M. Camuzeaux [Royaume-Uni] ; Emma J. Footitt [Royaume-Uni] ; Kevin A. Mills [Royaume-Uni] ; Paul Gissen [Royaume-Uni] ; Laura Fisher [Royaume-Uni] ; Krishna B. Das [Royaume-Uni] ; Sophia M. Varadkar [Royaume-Uni] ; Sameer Zuberi [Royaume-Uni] ; Robert Mcwilliam [Royaume-Uni] ; Tommy Stödberg [Suède] ; Barbara Plecko [Suisse] ; Matthias R. Baumgartner [Suisse] ; Oliver Maier [Suisse] ; Sophie Calvert [Australie] ; Kate Riney [Australie] ; Nicole I. Wolf [Pays-Bas] ; John H. Livingston [Royaume-Uni] ; Pronab Bala [Royaume-Uni] ; Chantal F. Morel [Canada] ; François Feillet [France] ; Francesco Raimondi [Italie] ; Ennio Del Giudice [Italie] ; W. Kling Chong [Royaume-Uni] ; Matthew Pitt [Royaume-Uni] ; Peter T. Clayton [Royaume-Uni]Source :
- Brain [ 0006-8950 ] ; 2014.
Abstract
Mutations in
Url:
DOI: 10.1093/brain/awu051
PubMed: 24645144
PubMed Central: 3999720
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PMC:3999720Le document en format XML
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Das</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF3">3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Varadkar, Sophia M" sort="Varadkar, Sophia M" uniqKey="Varadkar S" first="Sophia M." last="Varadkar">Sophia M. Varadkar</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF3">3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Zuberi, Sameer" sort="Zuberi, Sameer" uniqKey="Zuberi S" first="Sameer" last="Zuberi">Sameer Zuberi</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF4">4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Mcwilliam, Robert" sort="Mcwilliam, Robert" uniqKey="Mcwilliam R" first="Robert" last="Mcwilliam">Robert Mcwilliam</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF4">4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Stodberg, Tommy" sort="Stodberg, Tommy" uniqKey="Stodberg T" first="Tommy" last="Stödberg">Tommy Stödberg</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF5">5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna</wicri:regionArea><wicri:noRegion>17176 Solna</wicri:noRegion></affiliation></author><author><name sortKey="Plecko, Barbara" sort="Plecko, Barbara" uniqKey="Plecko B" first="Barbara" last="Plecko">Barbara Plecko</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF6">6 Division of Child Neurology and Children’s Research Centre (CRC), University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>6 Division of Child Neurology and Children’s Research Centre (CRC), University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Baumgartner, Matthias R" sort="Baumgartner, Matthias R" uniqKey="Baumgartner M" first="Matthias R." last="Baumgartner">Matthias R. Baumgartner</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF7">7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Maier, Oliver" sort="Maier, Oliver" uniqKey="Maier O" first="Oliver" last="Maier">Oliver Maier</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF8">8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen</wicri:regionArea><wicri:noRegion>St. Gallen</wicri:noRegion></affiliation></author><author><name sortKey="Calvert, Sophie" sort="Calvert, Sophie" uniqKey="Calvert S" first="Sophie" last="Calvert">Sophie Calvert</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea><wicri:noRegion>QLD 4101</wicri:noRegion></affiliation></author><author><name sortKey="Riney, Kate" sort="Riney, Kate" uniqKey="Riney K" first="Kate" last="Riney">Kate Riney</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea><wicri:noRegion>QLD 4101</wicri:noRegion></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I." last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:aff id="awu051-AFF10">10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF11">11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX</wicri:regionArea><wicri:noRegion>Leeds West Yorkshire LS1 3EX</wicri:noRegion></affiliation></author><author><name sortKey="Bala, Pronab" sort="Bala, Pronab" uniqKey="Bala P" first="Pronab" last="Bala">Pronab Bala</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF12">12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD</wicri:regionArea><wicri:noRegion>BD20 6TD</wicri:noRegion></affiliation></author><author><name sortKey="Morel, Chantal F" sort="Morel, Chantal F" uniqKey="Morel C" first="Chantal F." last="Morel">Chantal F. Morel</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF13">13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9</wicri:regionArea><wicri:noRegion>M5T 3L9</wicri:noRegion></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF14">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</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>54500</wicri:noRegion><wicri:noRegion>54500</wicri:noRegion></affiliation></author><author><name sortKey="Raimondi, Francesco" sort="Raimondi, Francesco" uniqKey="Raimondi F" first="Francesco" last="Raimondi">Francesco Raimondi</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF15">15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli</wicri:regionArea><wicri:noRegion>Università “Federico II” di Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Del Giudice, Ennio" sort="Del Giudice, Ennio" uniqKey="Del Giudice E" first="Ennio" last="Del Giudice">Ennio Del Giudice</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF16">16 Department of Paediatrics, University of Naples Federico II, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>16 Department of Paediatrics, University of Naples Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Chong, W Kling" sort="Chong, W Kling" uniqKey="Chong W" first="W. Kling" last="Chong">W. Kling Chong</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF17">17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea><wicri:noRegion>WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Pitt, Matthew" sort="Pitt, Matthew" uniqKey="Pitt M" first="Matthew" last="Pitt">Matthew Pitt</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF18">18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea><wicri:noRegion>WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T." last="Clayton">Peter T. Clayton</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24645144</idno><idno type="pmc">3999720</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999720</idno><idno type="RBID">PMC:3999720</idno><idno type="doi">10.1093/brain/awu051</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000523</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000523</idno><idno type="wicri:Area/Pmc/Curation">000523</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000523</idno><idno type="wicri:Area/Pmc/Checkpoint">001612</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001612</idno><idno type="wicri:Area/Ncbi/Merge">001876</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Epilepsy due to <italic>PNPO</italic> mutations: genotype, environment and treatment affect presentation and outcome</title><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B." last="Mills">Philippa B. Mills</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation></author><author><name sortKey="Camuzeaux, Stephane S M" sort="Camuzeaux, Stephane S M" uniqKey="Camuzeaux S" first="Stephane S. M." last="Camuzeaux">Stephane S. M. Camuzeaux</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation></author><author><name sortKey="Footitt, Emma J" sort="Footitt, Emma J" uniqKey="Footitt E" first="Emma J." last="Footitt">Emma J. Footitt</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Mills, Kevin A" sort="Mills, Kevin A" uniqKey="Mills K" first="Kevin A." last="Mills">Kevin A. Mills</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation></author><author><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Fisher, Laura" sort="Fisher, Laura" uniqKey="Fisher L" first="Laura" last="Fisher">Laura Fisher</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation></author><author><name sortKey="Das, Krishna B" sort="Das, Krishna B" uniqKey="Das K" first="Krishna B." last="Das">Krishna B. Das</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF3">3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Varadkar, Sophia M" sort="Varadkar, Sophia M" uniqKey="Varadkar S" first="Sophia M." last="Varadkar">Sophia M. Varadkar</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF3">3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Zuberi, Sameer" sort="Zuberi, Sameer" uniqKey="Zuberi S" first="Sameer" last="Zuberi">Sameer Zuberi</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF4">4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Mcwilliam, Robert" sort="Mcwilliam, Robert" uniqKey="Mcwilliam R" first="Robert" last="Mcwilliam">Robert Mcwilliam</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF4">4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Stodberg, Tommy" sort="Stodberg, Tommy" uniqKey="Stodberg T" first="Tommy" last="Stödberg">Tommy Stödberg</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF5">5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna</wicri:regionArea><wicri:noRegion>17176 Solna</wicri:noRegion></affiliation></author><author><name sortKey="Plecko, Barbara" sort="Plecko, Barbara" uniqKey="Plecko B" first="Barbara" last="Plecko">Barbara Plecko</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF6">6 Division of Child Neurology and Children’s Research Centre (CRC), University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>6 Division of Child Neurology and Children’s Research Centre (CRC), University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Baumgartner, Matthias R" sort="Baumgartner, Matthias R" uniqKey="Baumgartner M" first="Matthias R." last="Baumgartner">Matthias R. Baumgartner</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF7">7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Maier, Oliver" sort="Maier, Oliver" uniqKey="Maier O" first="Oliver" last="Maier">Oliver Maier</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF8">8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen</wicri:regionArea><wicri:noRegion>St. Gallen</wicri:noRegion></affiliation></author><author><name sortKey="Calvert, Sophie" sort="Calvert, Sophie" uniqKey="Calvert S" first="Sophie" last="Calvert">Sophie Calvert</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea><wicri:noRegion>QLD 4101</wicri:noRegion></affiliation></author><author><name sortKey="Riney, Kate" sort="Riney, Kate" uniqKey="Riney K" first="Kate" last="Riney">Kate Riney</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101</wicri:regionArea><wicri:noRegion>QLD 4101</wicri:noRegion></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I." last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:aff id="awu051-AFF10">10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF11">11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX</wicri:regionArea><wicri:noRegion>Leeds West Yorkshire LS1 3EX</wicri:noRegion></affiliation></author><author><name sortKey="Bala, Pronab" sort="Bala, Pronab" uniqKey="Bala P" first="Pronab" last="Bala">Pronab Bala</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF12">12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD</wicri:regionArea><wicri:noRegion>BD20 6TD</wicri:noRegion></affiliation></author><author><name sortKey="Morel, Chantal F" sort="Morel, Chantal F" uniqKey="Morel C" first="Chantal F." last="Morel">Chantal F. Morel</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF13">13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9</wicri:regionArea><wicri:noRegion>M5T 3L9</wicri:noRegion></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF14">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</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>54500</wicri:noRegion><wicri:noRegion>54500</wicri:noRegion></affiliation></author><author><name sortKey="Raimondi, Francesco" sort="Raimondi, Francesco" uniqKey="Raimondi F" first="Francesco" last="Raimondi">Francesco Raimondi</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF15">15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli</wicri:regionArea><wicri:noRegion>Università “Federico II” di Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Del Giudice, Ennio" sort="Del Giudice, Ennio" uniqKey="Del Giudice E" first="Ennio" last="Del Giudice">Ennio Del Giudice</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF16">16 Department of Paediatrics, University of Naples Federico II, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>16 Department of Paediatrics, University of Naples Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Chong, W Kling" sort="Chong, W Kling" uniqKey="Chong W" first="W. Kling" last="Chong">W. Kling Chong</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF17">17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea><wicri:noRegion>WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Pitt, Matthew" sort="Pitt, Matthew" uniqKey="Pitt M" first="Matthew" last="Pitt">Matthew Pitt</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF18">18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH</wicri:regionArea><wicri:noRegion>WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T." last="Clayton">Peter T. Clayton</name><affiliation wicri:level="1"><nlm:aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH</wicri:regionArea><wicri:noRegion>London WC1N 3JH</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mutations in <italic>PNPO</italic> are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills <italic>et al</italic>. show that <italic>PNPO</italic> mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Albersen, M" uniqKey="Albersen M">M Albersen</name></author><author><name sortKey="Groenendaal, F" uniqKey="Groenendaal F">F Groenendaal</name></author><author><name sortKey="Van Der Ham, M" uniqKey="Van Der Ham M">M van der Ham</name></author><author><name sortKey="De Koning, Tj" uniqKey="De Koning T">TJ de Koning</name></author><author><name sortKey="Bosma, M" uniqKey="Bosma M">M Bosma</name></author><author><name sortKey="Visser, Wf" uniqKey="Visser W">WF Visser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Anderson, Bb" uniqKey="Anderson B">BB Anderson</name></author><author><name sortKey="Giuberti, M" uniqKey="Giuberti M">M 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24645144</article-id><article-id pub-id-type="pmc">3999720</article-id><article-id pub-id-type="doi">10.1093/brain/awu051</article-id><article-id pub-id-type="publisher-id">awu051</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title>Epilepsy due to <italic>PNPO</italic> mutations: genotype, environment and treatment affect presentation and outcome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Mills</surname><given-names>Philippa B.</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Camuzeaux</surname><given-names>Stephane S.M.</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Footitt</surname><given-names>Emma J.</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awu051-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mills</surname><given-names>Kevin A.</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gissen</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awu051-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Fisher</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Das</surname><given-names>Krishna B.</given-names></name><xref ref-type="aff" rid="awu051-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Varadkar</surname><given-names>Sophia M.</given-names></name><xref ref-type="aff" rid="awu051-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zuberi</surname><given-names>Sameer</given-names></name><xref ref-type="aff" rid="awu051-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>McWilliam</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="awu051-AFF4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Stödberg</surname><given-names>Tommy</given-names></name><xref ref-type="aff" rid="awu051-AFF5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Plecko</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="awu051-AFF6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Baumgartner</surname><given-names>Matthias R.</given-names></name><xref ref-type="aff" rid="awu051-AFF7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Maier</surname><given-names>Oliver</given-names></name><xref ref-type="aff" rid="awu051-AFF8"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Calvert</surname><given-names>Sophie</given-names></name><xref ref-type="aff" rid="awu051-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Riney</surname><given-names>Kate</given-names></name><xref ref-type="aff" rid="awu051-AFF9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Wolf</surname><given-names>Nicole I.</given-names></name><xref ref-type="aff" rid="awu051-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Livingston</surname><given-names>John H.</given-names></name><xref ref-type="aff" rid="awu051-AFF11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bala</surname><given-names>Pronab</given-names></name><xref ref-type="aff" rid="awu051-AFF12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Morel</surname><given-names>Chantal F.</given-names></name><xref ref-type="aff" rid="awu051-AFF13"><sup>13</sup></xref></contrib><contrib contrib-type="author"><name><surname>Feillet</surname><given-names>François</given-names></name><xref ref-type="aff" rid="awu051-AFF14"><sup>14</sup></xref></contrib><contrib contrib-type="author"><name><surname>Raimondi</surname><given-names>Francesco</given-names></name><xref ref-type="aff" rid="awu051-AFF15"><sup>15</sup></xref></contrib><contrib contrib-type="author"><name><surname>Del Giudice</surname><given-names>Ennio</given-names></name><xref ref-type="aff" rid="awu051-AFF16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Chong</surname><given-names>W. Kling</given-names></name><xref ref-type="aff" rid="awu051-AFF17"><sup>17</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pitt</surname><given-names>Matthew</given-names></name><xref ref-type="aff" rid="awu051-AFF18"><sup>18</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Clayton</surname><given-names>Peter T.</given-names></name><xref ref-type="aff" rid="awu051-AFF1"><sup>1</sup></xref><xref ref-type="aff" rid="awu051-AFF2"><sup>2</sup></xref></contrib><aff id="awu051-AFF1">1 Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK</aff><aff id="awu051-AFF2">2 Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</aff><aff id="awu051-AFF3">3 Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK</aff><aff id="awu051-AFF4">4 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, Glasgow G41 3JE, Scotland, UK</aff><aff id="awu051-AFF5">5 Neuropaediatric Unit, Astrid Lindgren Children’s Hospital, 17176 Solna, Sweden</aff><aff id="awu051-AFF6">6 Division of Child Neurology and Children’s Research Centre (CRC), University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</aff><aff id="awu051-AFF7">7 Division of Metabolic Diseases, University Children’s Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland</aff><aff id="awu051-AFF8">8 Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation, St. Gallen, Switzerland</aff><aff id="awu051-AFF9">9 Neurosciences Unit, Mater Children’s Hospital, South Brisbane, QLD 4101, Australia</aff><aff id="awu051-AFF10">10 Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam, 1007MB, Amsterdam, The Netherlands</aff><aff id="awu051-AFF11">11 Leeds Children’s Hospital, Clarendon Wing, Leeds General Infirmary, Leeds West Yorkshire LS1 3EX, UK</aff><aff id="awu051-AFF12">12 Airedale NHS Foundation Trust, Skipton Road, Steeton, BD20 6TD, UK</aff><aff id="awu051-AFF13">13 Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street, Toronto, Ontario, M5T 3L9, Canada</aff><aff id="awu051-AFF14">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</aff><aff id="awu051-AFF15">15 Department of Medical Translational Sciences, Section of Paediatrics, Università “Federico II” di Napoli, Italy</aff><aff id="awu051-AFF16">16 Department of Paediatrics, University of Naples Federico II, Naples, Italy</aff><aff id="awu051-AFF17">17 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</aff><aff id="awu051-AFF18">18 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK</aff></contrib-group><author-notes><corresp>Correspondence to: Prof. Peter T. Clayton, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St, London WC1N 1EH UK E-mail: <email>peter.clayton@ucl.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><month>5</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>18</day><month>3</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>3</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>137</volume><issue>5</issue><fpage>1350</fpage><lpage>1360</lpage><history><date date-type="received"><day>3</day><month>10</month><year>2013</year></date><date date-type="rev-recd"><day>29</day><month>11</month><year>2013</year></date><date date-type="accepted"><day>20</day><month>1</month><year>2014</year></date></history><permissions><copyright-statement>© The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain.</copyright-statement><copyright-year>2014</copyright-year><license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/"><license-p><pmc-comment>CREATIVE COMMONS</pmc-comment>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</ext-link>), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com</license-p></license></permissions><abstract abstract-type="precis"><p>Mutations in <italic>PNPO</italic> are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills <italic>et al</italic>. show that <italic>PNPO</italic> mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms.</p></abstract><abstract><p>The first described patients with pyridox(am)ine 5’-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5’-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5’-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the <italic>PNPO</italic> gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5’-phosphate. Novel sequence changes were studied using a new cell-free expression system and a mass spectrometry-based assay for pyridoxamine phosphate oxidase. Three groups of patients with <italic>PNPO</italic> mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5’-phosphate (<italic>n</italic> = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5’-phosphate (<italic>n</italic> = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (<italic>n</italic> = 8). Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. Other mutations seem to be associated with infertility, miscarriage and prematurity. However, the situation is clearly complex with the same combination of mutations being seen in patients who responded and did not respond to pyridoxine. It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. Other additional factors that are likely to influence treatment response and outcome include riboflavin status and how well the foetus has been supplied with vitamin B<sub>6</sub> by the mother. For some patients there was a worsening of symptoms on changing from pyridoxine to pyridoxal 5’-phosphate. Many of the mutations in PNPO affected residues involved in binding flavin mononucleotide or pyridoxal 5’-phosphate and many of them showed residual enzyme activity. One sequence change (R116Q), predicted to affect flavin mononucleotide binding and binding of the two PNPO dimers, and with high residual activity was found in Groups (ii) and (iii). This sequence change has been reported in the 1000 Genomes project suggesting it could be a polymorphism but alternatively it could be a common mutation, perhaps responsible for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592). We believe the reduction in PNPO activity and B<sub>6</sub>-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>pyridoxal 5’-phosphate (PLP)</kwd><kwd>pyridoxine</kwd><kwd>pyridox(am)ine 5’-phosphate oxidase (PNPO)</kwd><kwd>seizures</kwd><kwd>epilepsy</kwd></kwd-group><counts><page-count count="11"></page-count></counts></article-meta></front></pmc><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>Suède</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B." last="Mills">Philippa B. Mills</name></noRegion><name sortKey="Bala, Pronab" sort="Bala, Pronab" uniqKey="Bala P" first="Pronab" last="Bala">Pronab Bala</name><name sortKey="Camuzeaux, Stephane S M" sort="Camuzeaux, Stephane S M" uniqKey="Camuzeaux S" first="Stephane S. M." last="Camuzeaux">Stephane S. M. Camuzeaux</name><name sortKey="Chong, W Kling" sort="Chong, W Kling" uniqKey="Chong W" first="W. Kling" last="Chong">W. Kling Chong</name><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T." last="Clayton">Peter T. Clayton</name><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T." last="Clayton">Peter T. Clayton</name><name sortKey="Das, Krishna B" sort="Das, Krishna B" uniqKey="Das K" first="Krishna B." last="Das">Krishna B. Das</name><name sortKey="Fisher, Laura" sort="Fisher, Laura" uniqKey="Fisher L" first="Laura" last="Fisher">Laura Fisher</name><name sortKey="Footitt, Emma J" sort="Footitt, Emma J" uniqKey="Footitt E" first="Emma J." last="Footitt">Emma J. Footitt</name><name sortKey="Footitt, Emma J" sort="Footitt, Emma J" uniqKey="Footitt E" first="Emma J." last="Footitt">Emma J. Footitt</name><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H." last="Livingston">John H. Livingston</name><name sortKey="Mcwilliam, Robert" sort="Mcwilliam, Robert" uniqKey="Mcwilliam R" first="Robert" last="Mcwilliam">Robert Mcwilliam</name><name sortKey="Mills, Kevin A" sort="Mills, Kevin A" uniqKey="Mills K" first="Kevin A." last="Mills">Kevin A. Mills</name><name sortKey="Pitt, Matthew" sort="Pitt, Matthew" uniqKey="Pitt M" first="Matthew" last="Pitt">Matthew Pitt</name><name sortKey="Varadkar, Sophia M" sort="Varadkar, Sophia M" uniqKey="Varadkar S" first="Sophia M." last="Varadkar">Sophia M. Varadkar</name><name sortKey="Zuberi, Sameer" sort="Zuberi, Sameer" uniqKey="Zuberi S" first="Sameer" last="Zuberi">Sameer Zuberi</name></country><country name="Suède"><noRegion><name sortKey="Stodberg, Tommy" sort="Stodberg, Tommy" uniqKey="Stodberg T" first="Tommy" last="Stödberg">Tommy Stödberg</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Plecko, Barbara" sort="Plecko, Barbara" uniqKey="Plecko B" first="Barbara" last="Plecko">Barbara Plecko</name></noRegion><name sortKey="Baumgartner, Matthias R" sort="Baumgartner, Matthias R" uniqKey="Baumgartner M" first="Matthias R." last="Baumgartner">Matthias R. Baumgartner</name><name sortKey="Maier, Oliver" sort="Maier, Oliver" uniqKey="Maier O" first="Oliver" last="Maier">Oliver Maier</name></country><country name="Australie"><noRegion><name sortKey="Calvert, Sophie" sort="Calvert, Sophie" uniqKey="Calvert S" first="Sophie" last="Calvert">Sophie Calvert</name></noRegion><name sortKey="Riney, Kate" sort="Riney, Kate" uniqKey="Riney K" first="Kate" last="Riney">Kate Riney</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I." last="Wolf">Nicole I. Wolf</name></region></country><country name="Canada"><noRegion><name sortKey="Morel, Chantal F" sort="Morel, Chantal F" uniqKey="Morel C" first="Chantal F." last="Morel">Chantal F. Morel</name></noRegion></country><country name="France"><noRegion><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Raimondi, Francesco" sort="Raimondi, Francesco" uniqKey="Raimondi F" first="Francesco" last="Raimondi">Francesco Raimondi</name></noRegion><name sortKey="Del Giudice, Ennio" sort="Del Giudice, Ennio" uniqKey="Del Giudice E" first="Ennio" last="Del Giudice">Ennio Del Giudice</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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