The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Saved in:
Bibliographic Details
Title: The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 29630738
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29630738
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
ResultId 1