The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
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| Title: | The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. |
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| Authors: | Chatron N; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France., Møller RS; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark., Champaigne NL; Greenwood Genetic Center, Greenwood, SC., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC, Australia., Kuechler A; Institut für Humangenetik, Universitätsklinikum, and Universität Duisburg-Essen, Essen, Germany., Labalme A; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France., Simonet T; Service de Biostatistique-Bioinformatique, Lyon University Hospital, Lyon and CNRS UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, Villeurbanne, and University Claude Bernard Lyon 1, Lyon, France., Baggett L; Greenwood Genetic Center, Greenwood, SC., Bardel C; Centre de Biotechnologie Cellulaire, Hospices Civils de Lyon, Lyon, and Nerve-Muscle Interactions Team, Institut NeuroMyoGène CNRS UMR 5310-INSERM U1217-Université Claude Bernard Lyon 1, Lyon, France., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Romano C; Oasi Research Institute-IRCCS, Troina, Italy., Aronsson J; Habiliteringscentrum, Ryhov Hospital, Jönköping, Sweden., Alberti A; Oasi Research Institute-IRCCS, Troina, Italy., Vinci M; Oasi Research Institute-IRCCS, Troina, Italy., Miranda MJ; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen, Denmark., Lacroix A; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA., Marjanovic D; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark., des Portes V; Centre de référence « Déficiences Intellectuelles de causes rares », HCL, F-69675, Bron; ISC, CNRS UMR 5304, Bron; Université de Lyon, Lyon, France., Edery P; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France., Wieczorek D; Institut für Humangenetik, Universitätsklinikum, and Universität Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, and Institut für Humangenetik, Universitätsklinikum Düsseldorf, Düsseldorf, Germany., Gardella E; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, VIC, Australia.; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia., Mefford H; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA., Sanlaville D; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France., Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Lesca G; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France. |
| Source: | Annals of neurology [Ann Neurol] 2018 May; Vol. 83 (5), pp. 926-934. Date of Electronic Publication: 2018 Apr 30. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29630738 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Champaigne+NL%22">Champaigne NL</searchLink>; Greenwood Genetic Center, Greenwood, SC.<br /><searchLink fieldCode="AU" term="%22Schneider+AL%22">Schneider AL</searchLink>; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institut für Humangenetik, Universitätsklinikum, and Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink>; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Simonet+T%22">Simonet T</searchLink>; Service de Biostatistique-Bioinformatique, Lyon University Hospital, Lyon and CNRS UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, Villeurbanne, and University Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Baggett+L%22">Baggett L</searchLink>; Greenwood Genetic Center, Greenwood, SC.<br /><searchLink fieldCode="AU" term="%22Bardel+C%22">Bardel C</searchLink>; Centre de Biotechnologie Cellulaire, Hospices Civils de Lyon, Lyon, and Nerve-Muscle Interactions Team, Institut NeuroMyoGène CNRS UMR 5310-INSERM U1217-Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Romano+C%22">Romano C</searchLink>; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Aronsson+J%22">Aronsson J</searchLink>; Habiliteringscentrum, Ryhov Hospital, Jönköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Alberti+A%22">Alberti A</searchLink>; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Vinci+M%22">Vinci M</searchLink>; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Miranda+MJ%22">Miranda MJ</searchLink>; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Lacroix+A%22">Lacroix A</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Marjanovic+D%22">Marjanovic D</searchLink>; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22des+Portes+V%22">des Portes V</searchLink>; Centre de référence « Déficiences Intellectuelles de causes rares », HCL, F-69675, Bron; ISC, CNRS UMR 5304, Bron; Université de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Edery+P%22">Edery P</searchLink>; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Wieczorek+D%22">Wieczorek D</searchLink>; Institut für Humangenetik, Universitätsklinikum, and Universität Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, and Institut für Humangenetik, Universitätsklinikum Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Gardella+E%22">Gardella E</searchLink>; Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, VIC, Australia.; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mefford+H%22">Mefford H</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Carvill+GL%22">Carvill GL</searchLink>; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227707449%22">Annals of neurology</searchLink> [Ann Neurol] 2018 May; Vol. 83 (5), pp. 926-934. <i>Date of Electronic Publication: </i>2018 Apr 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7707449 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8249 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203645134%22">03645134 </searchLink><i>NLM ISO Abbreviation: </i>Ann Neurol |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ana.25222 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 926 Titles: – TitleFull: The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chatron N – PersonEntity: Name: NameFull: Møller RS – PersonEntity: Name: NameFull: Champaigne NL – PersonEntity: Name: NameFull: Schneider AL – PersonEntity: Name: NameFull: Kuechler A – PersonEntity: Name: NameFull: Labalme A – PersonEntity: Name: NameFull: Simonet T – PersonEntity: Name: NameFull: Baggett L – PersonEntity: Name: NameFull: Bardel C – PersonEntity: Name: NameFull: Kamsteeg EJ – PersonEntity: Name: NameFull: Pfundt R – PersonEntity: Name: NameFull: Romano C – PersonEntity: Name: NameFull: Aronsson J – PersonEntity: Name: NameFull: Alberti A – PersonEntity: Name: NameFull: Vinci M – PersonEntity: Name: NameFull: Miranda MJ – PersonEntity: Name: NameFull: Lacroix A – PersonEntity: Name: NameFull: Marjanovic D – PersonEntity: Name: NameFull: des Portes V – PersonEntity: Name: NameFull: Edery P – PersonEntity: Name: NameFull: Wieczorek D – PersonEntity: Name: NameFull: Gardella E – PersonEntity: Name: NameFull: Scheffer IE – PersonEntity: Name: NameFull: Mefford H – PersonEntity: Name: NameFull: Sanlaville D – PersonEntity: Name: NameFull: Carvill GL – PersonEntity: Name: NameFull: Lesca G IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2018 May Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1531-8249 Numbering: – Type: volume Value: 83 – Type: issue Value: 5 Titles: – TitleFull: Annals of neurology Type: main |
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