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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

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Title: HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Authors: Houdayer C; Department of Medical Genetics, Angers University Hospital, Angers, France., Phillips AM; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; School of Biosciences, The University of Melbourne, Parkville, Victoria, Australia., Chabbert M; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France., Bourreau J; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Richards K; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children's Welfare Teaching Hospital, Baghdad, Iraq., Dad'ová E; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France., Van Bogaert P; Department of Pediatric Neurology, Angers University Hospital, Angers, France., Rupin M; Department of Pediatric Neurology, Angers University Hospital, Angers, France., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France., Charles P; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, France., Smol T; University of Lille, CHU Lille, ULR7364 - RADEME, Institute of Medical Genetics, Lille, France., Riquet A; Department of Pediatric Neurology, Saint Vincent de Paul Hospital, GHICL, Lille, France., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark., Møller RS; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark., Olofsson K; Department of Paediatrics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Dasouki M; Department of Medical Genetics, Genomics and Personalized Health at AdventHealth-Orlando, Orlando, FL, USA., Seaver LH; Division of Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, USA., Sullivan JA; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA., Shashi V; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Poss AF; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA., Spence JE; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Forster IC; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Mckenzie CE; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Simons C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wang M; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Snell P; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Kothur K; Department of Neuropediatrics, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Buckley M; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia., Roscioli T; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia., Elserafy N; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, New South Wales, Australia., Dauriat B; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France., Procaccio V; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France., Henrion D; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France., Lenaers G; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Legendre C; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France., Reid CA; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Howell KB; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia., Ziegler A; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Department of Medical Genetics, University Hospital of Reims, Reims, France., Legros C; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.
Source: Annals of neurology [Ann Neurol] 2025 Sep; Vol. 98 (3), pp. 573-589. Date of Electronic Publication: 2025 Jun 05.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
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 Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
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  Data: <searchLink fieldCode="AU" term="%22Houdayer+C%22">Houdayer C</searchLink>; Department of Medical Genetics, Angers University Hospital, Angers, France.<br /><searchLink fieldCode="AU" term="%22Phillips+AM%22">Phillips AM</searchLink>; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.; School of Biosciences, The University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Chabbert+M%22">Chabbert M</searchLink>; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.<br /><searchLink fieldCode="AU" term="%22Bourreau+J%22">Bourreau J</searchLink>; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; 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Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22VanNoy+GE%22">VanNoy GE</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Olofsson+K%22">Olofsson K</searchLink>; Department of Paediatrics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Dasouki+M%22">Dasouki M</searchLink>; Department of Medical Genetics, Genomics and Personalized Health at AdventHealth-Orlando, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Seaver+LH%22">Seaver LH</searchLink>; Division of Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+JA%22">Sullivan JA</searchLink>; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Department of Pediatrics - Medical Genetics, Duke University, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Poss+AF%22">Poss AF</searchLink>; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Spence+JE%22">Spence JE</searchLink>; Pediatrics-Clinical Genetics and Metabolism, School of Medicine, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Forster+IC%22">Forster IC</searchLink>; Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mckenzie+CE%22">Mckenzie CE</searchLink>; 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Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Department of Medical Genetics, Angers University Hospital, Angers, France.; Univ Angers, INSERM, CNRS, MITOVASC, Equipe MitoLab, SFR ICAT, Angers, France.; Department of Medical Genetics, University Hospital of Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Legros+C%22">Legros C</searchLink>; University of Angers, INSERM, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, Angers, France.
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            NameFull: Legros C
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2025 Sep
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8249
          Numbering:
            – Type: volume
              Value: 98
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Annals of neurology
              Type: main
ResultId 1