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Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.

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Title: Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.
Authors: Underwood JFG; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK. underwoodj4@cardiff.ac.uk., Timothy KW; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA., Tyroll H; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK., Levy RJ; Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA., Dick IE; Department of Pharmacology and Physiology, University of Maryland, School of Medicine, Baltimore, MD, USA., Pitt GS; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA., Tunbridge EM; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK., Baban A; The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Cardiology, Bambino Gesu Hospital, Rome, Italy.; Department Clinical Molecular Genetics and Precision Medicine, Mediclinic City Hospital, Dubai, UAE., Wilkinson G; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK., Hall NAL; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.; Oxford Health NHS Foundation Trust, Warneford Hospital, Oxford, UK., Sarquella Brugada G; The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.; Pediatrics Department, School of Medicine, Universitat de Barcelona, Barcelona, Spain., Bauer R; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA., Abrams D; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Hall J; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.; Hodge Centre for Translational Neuroscience, Cardiff University, Cardiff, UK.
Corporate Authors: Timothy Syndrome Alliance (TSA)
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Underwood+JFG%22">Underwood JFG</searchLink>; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK. underwoodj4@cardiff.ac.uk.<br /><searchLink fieldCode="AU" term="%22Timothy+KW%22">Timothy KW</searchLink>; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Tyroll+H%22">Tyroll H</searchLink>; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Levy+RJ%22">Levy RJ</searchLink>; Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Dick+IE%22">Dick IE</searchLink>; Department of Pharmacology and Physiology, University of Maryland, School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Pitt+GS%22">Pitt GS</searchLink>; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Tunbridge+EM%22">Tunbridge EM</searchLink>; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Baban+A%22">Baban A</searchLink>; The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Cardiology, Bambino Gesu Hospital, Rome, Italy.; Department Clinical Molecular Genetics and Precision Medicine, Mediclinic City Hospital, Dubai, UAE.<br /><searchLink fieldCode="AU" term="%22Wilkinson+G%22">Wilkinson G</searchLink>; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Hall+NAL%22">Hall NAL</searchLink>; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.; Oxford Health NHS Foundation Trust, Warneford Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Sarquella+Brugada+G%22">Sarquella Brugada G</searchLink>; The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain.; Pediatrics Department, School of Medicine, Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Bauer+R%22">Bauer R</searchLink>; The Timothy Syndrome Foundation, Charitable Organization, Brigham City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Abrams+D%22">Abrams D</searchLink>; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hall+J%22">Hall J</searchLink>; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK.; Hodge Centre for Translational Neuroscience, Cardiff University, Cardiff, UK.
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