Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Identifieur interne : 003A23 ( Main/Merge ); précédent : 003A22; suivant : 003A24Epilepsy 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><idno type="wicri:Area/Ncbi/Curation">001876</idno><idno type="wicri:Area/Ncbi/Checkpoint">001876</idno><idno type="wicri:doubleKey">0006-8950:2014:Mills P:epilepsy:due:to</idno><idno type="wicri:Area/Main/Merge">003A23</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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