AustralieFrV1, Main, Exploration, bibRecord, 004183

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

Identifieur interne : 004183 ( Main/Exploration ); précédent : 004182; suivant : 004184

Epilepsy 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.

RBID : Pascal:14-0138278

Descripteurs français

Pascal (Inist)
- Epilepsie, Convulsion, Pathologie du système nerveux, Mutation, Génotype, Environnement, Traitement, Pronostic, Pyridoxal phosphate, Pyridoxine, Phosphate, Oxidase.
Wicri :
- topic : Phosphate.

English descriptors

KwdEn :
- Convulsion, Environment, Epilepsy, Genotype, Mutation, Nervous system diseases, Oxidase, Phosphates, Prognosis, Pyridoxal phosphate, Pyridoxine, Treatment.

Abstract

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 PNPO 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 PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999720

Affiliations:

Australie, Canada, France, Italie, Pays-Bas, Royaume-Uni, Suisse, Suède
Hollande-Septentrionale
Amsterdam

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Epilepsy due to PNPO 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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 1EH</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 1EH</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="03"><s1>Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="03"><s1>Neurosciences Unit, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="04"><s1>Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St</s1>
<s2>Yorkhill, Glasgow G41 3JE, Scotland</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Yorkhill, Glasgow G41 3JE, 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"><inist:fA14 i1="04"><s1>Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Dalnair St</s1>
<s2>Yorkhill, Glasgow G41 3JE, Scotland</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Yorkhill, Glasgow G41 3JE, 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"><inist:fA14 i1="05"><s1>Neuropaediatric Unit, Astrid Lindgren Children's Hospital</s1>
<s2>17176 Solna</s2>
<s3>SWE</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<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"><inist:fA14 i1="06"><s1>Division of Child Neurology and Children's Research Centre (CRC), University Children's Hospital Zurich, Steinwiesstrasse 75</s1>
<s2>8032, Zurich</s2>
<s3>CHE</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>8032, 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"><inist:fA14 i1="07"><s1>Division of Metabolic Diseases, University Children's Hospital Zurich, Steinwiesstrasse 75</s1>
<s2>8032, Zurich</s2>
<s3>CHE</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<wicri:noRegion>8032, 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"><inist:fA14 i1="08"><s1>Hospital of Eastern Switzerland, Department of Child Neurology, Development and Rehabilitation</s1>
<s2>St. Gallen</s2>
<s3>CHE</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<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"><inist:fA14 i1="09"><s1>Neurosciences Unit, Mater Children's Hospital</s1>
<s2>South Brisbane, QLD 4101</s2>
<s3>AUS</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>South Brisbane, 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"><inist:fA14 i1="09"><s1>Neurosciences Unit, Mater Children's Hospital</s1>
<s2>South Brisbane, QLD 4101</s2>
<s3>AUS</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>South Brisbane, 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"><inist:fA14 i1="10"><s1>Department of Child Neurology, VU University Medical Centre and Neuroscience Campus Amsterdam</s1>
<s2>1007MB, Amsterdam</s2>
<s3>NLD</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<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"><inist:fA14 i1="11"><s1>Leeds Children's Hospital, Clarendon Wing, Leeds General Infirmary</s1>
<s2>Leeds West Yorkshire LS1 3EX</s2>
<s3>GBR</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<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"><inist:fA14 i1="12"><s1>Airedale NHS Foundation Trust, Skipton Road</s1>
<s2>Steeton, BD20 6TD</s2>
<s3>GBR</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Steeton, 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"><inist:fA14 i1="13"><s1>Department of Medicine, Adult Genetics Clinic, University Health Network, 60 Murray Street</s1>
<s2>Toronto, Ontario, M5T 3L9</s2>
<s3>CAN</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario, 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"><inist:fA14 i1="14"><s1>Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Paediatrics, Children's Hospital of Nancy, Allée du Morvan</s1>
<s2>Vandoeuvre les Nancy 54500</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>54500</wicri:noRegion>
<wicri:noRegion>Allée du Morvan</wicri:noRegion>
<wicri:noRegion>Vandoeuvre les Nancy 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"><inist:fA14 i1="15"><s1>Department of Medical Translational Sciences, Section of Paediatrics, Università "Federico II" di Napoli</s1>
<s3>ITA</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Medical Translational Sciences, Section of Paediatrics, 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"><inist:fA14 i1="16"><s1>Department of Paediatrics, University of Naples Federico II</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kling Chong, W" sort="Kling Chong, W" uniqKey="Kling Chong W" first="W." last="Kling Chong">W. Kling Chong</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London, WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London, 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"><inist:fA14 i1="18"><s1>Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London, WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London, 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"><inist:fA14 i1="01"><s1>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford St</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 1EH</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Foundation Trust</s1>
<s2>London WC1N 3JH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC1N 3JH</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Brain</title>
<title level="j" type="abbreviated">Brain</title>
<idno type="ISSN">0006-8950</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Brain</title>
<title level="j" type="abbreviated">Brain</title>
<idno type="ISSN">0006-8950</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Convulsion</term>
<term>Environment</term>
<term>Epilepsy</term>
<term>Genotype</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Oxidase</term>
<term>Phosphates</term>
<term>Prognosis</term>
<term>Pyridoxal phosphate</term>
<term>Pyridoxine</term>
<term>Treatment</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Epilepsie</term>
<term>Convulsion</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Génotype</term>
<term>Environnement</term>
<term>Traitement</term>
<term>Pronostic</term>
<term>Pyridoxal phosphate</term>
<term>Pyridoxine</term>
<term>Phosphate</term>
<term>Oxidase</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Phosphate</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 PNPO 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 PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 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.</div>
</front>
</TEI>
<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="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="Kling Chong, W" sort="Kling Chong, W" uniqKey="Kling Chong W" first="W." last="Kling Chong">W. Kling Chong</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>
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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
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   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:14-0138278
   |texte=   Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

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

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

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	Serveur d'exploration sur les relations entre la France et l'Australie
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