Rare copy number variants are an important cause of epileptic encephalopathies
Identifieur interne : 001805 ( Main/Exploration ); précédent : 001804; suivant : 001806Rare copy number variants are an important cause of epileptic encephalopathies
Auteurs : Heather C. Mefford [États-Unis] ; Simone C. Yendle [Australie] ; Cynthia Hsu [États-Unis] ; Joseph Cook [États-Unis] ; Eileen Geraghty [États-Unis] ; Jacinta M. Mcmahon [Australie] ; Orvar Eeg-Olofsson [Suède] ; Lynette G. Sadleir [Nouvelle-Zélande] ; Deepak Gill [Australie] ; Bruria Ben-Zeev [Israël] ; Tally Lerman-Sagie [Israël] ; Mark Mackay [Australie] ; Jeremy L. Freeman [Australie] ; Eva Andermann [Canada] ; James T. Pelakanos [Australie] ; Ian Andrews [Australie] ; Geoffrey Wallace [Australie] ; Evan E. Eichler [États-Unis] ; Samuel F. Berkovic [Australie] ; Ingrid E. Scheffer [Australie]Source :
- Annals of Neurology [ 0364-5134 ] ; 2011-12.
Abstract
Rare copy number variants (CNVs)—deletions and duplications—have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed.
Url:
- https://api-v5.istex.fr/document/4599DAC6963366205E33DDFEE3DB83993FCC019E/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245646
DOI: 10.1002/ana.22645
Affiliations:
- Australie, Canada, Israël, Nouvelle-Zélande, Suède, États-Unis
- East Middle Sweden, Québec, Svealand, Washington (État)
- Montréal, Sydney, Uppsala
- Université McGill, Université d'Uppsala
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002689
- to stream Istex, to step Curation: 002689
- to stream Istex, to step Checkpoint: 000390
- to stream Pmc, to step Corpus: 000473
- to stream Pmc, to step Curation: 000473
- to stream Pmc, to step Checkpoint: 000907
- to stream Ncbi, to step Merge: 001028
- to stream Ncbi, to step Curation: 001028
- to stream Ncbi, to step Checkpoint: 001028
- to stream Main, to step Merge: 001883
- to stream Main, to step Curation: 001805
Le document en format XML
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Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead</wicri:regionArea><wicri:noRegion>Westmead</wicri:noRegion></affiliation></author><author><name sortKey="Ben Eev, Bruria" sort="Ben Eev, Bruria" uniqKey="Ben Eev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea><wicri:noRegion>Tel‐Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation></author><author><name sortKey="Mackay, Mark" sort="Mackay, Mark" uniqKey="Mackay M" first="Mark" last="Mackay">Mark Mackay</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</wicri:regionArea><wicri:noRegion>Royal Children's Hospital</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Royal Children's Hospital</wicri:regionArea><wicri:noRegion>Royal Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Freeman, Jeremy L" sort="Freeman, Jeremy L" uniqKey="Freeman J" first="Jeremy L." last="Freeman">Jeremy L. Freeman</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Royal Children's Hospital</wicri:regionArea><wicri:noRegion>Royal Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Neurogenetics Unit, Montreal Neurological Hospital and Institute, Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Pelakanos, James T" sort="Pelakanos, James T" uniqKey="Pelakanos J" first="James T." last="Pelakanos">James T. Pelakanos</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Neurology, Royal Children's Hospital, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Andrews, Ian" sort="Andrews, Ian" uniqKey="Andrews I" first="Ian" last="Andrews">Ian Andrews</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Sydney Children's Hospital, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Wallace, Geoffrey" sort="Wallace, Geoffrey" uniqKey="Wallace G" first="Geoffrey" last="Wallace">Geoffrey Wallace</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane</wicri:regionArea><wicri:noRegion>South Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Howard Hughes Medical Institute, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health</wicri:regionArea><wicri:noRegion>Austin Health</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health</wicri:regionArea><wicri:noRegion>Austin Health</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Royal Children's Hospital</wicri:regionArea><wicri:noRegion>Royal Children's Hospital</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Royal Children's Hospital</wicri:regionArea><wicri:noRegion>Royal Children's Hospital</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Neuroscience Institutes, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-12">2011-12</date><biblScope unit="volume">70</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="974">974</biblScope><biblScope unit="page" to="985">985</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">4599DAC6963366205E33DDFEE3DB83993FCC019E</idno><idno type="DOI">10.1002/ana.22645</idno><idno type="ArticleID">ANA22645</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Rare copy number variants (CNVs)—deletions and duplications—have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>Israël</li><li>Nouvelle-Zélande</li><li>Suède</li><li>États-Unis</li></country><region><li>East Middle Sweden</li><li>Québec</li><li>Svealand</li><li>Washington (État)</li></region><settlement><li>Montréal</li><li>Sydney</li><li>Uppsala</li></settlement><orgName><li>Université McGill</li><li>Université d'Uppsala</li></orgName></list><tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. 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Mcmahon</name><name sortKey="Pelakanos, James T" sort="Pelakanos, James T" uniqKey="Pelakanos J" first="James T." last="Pelakanos">James T. Pelakanos</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Wallace, Geoffrey" sort="Wallace, Geoffrey" uniqKey="Wallace G" first="Geoffrey" last="Wallace">Geoffrey Wallace</name></country><country name="Suède"><region name="Svealand"><name sortKey="Eeg Lofsson, Orvar" sort="Eeg Lofsson, Orvar" uniqKey="Eeg Lofsson O" first="Orvar" last="Eeg-Olofsson">Orvar Eeg-Olofsson</name></region></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Sadleir, Lynette G" sort="Sadleir, Lynette G" uniqKey="Sadleir L" first="Lynette G." last="Sadleir">Lynette G. Sadleir</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Ben Eev, Bruria" sort="Ben Eev, Bruria" uniqKey="Ben Eev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name></noRegion><name sortKey="Ben Eev, Bruria" sort="Ben Eev, Bruria" uniqKey="Ben Eev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><name sortKey="Lerman Agie, Tally" sort="Lerman Agie, Tally" uniqKey="Lerman Agie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name></country><country name="Canada"><region name="Québec"><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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