{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T14:56:30Z","timestamp":1779893790911,"version":"3.53.1"},"reference-count":136,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T00:00:00Z","timestamp":1692921600000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003197","name":"AIFA","doi-asserted-by":"publisher","award":["2018-0001470 EUDRA CT 2020-000250-94"],"award-info":[{"award-number":["2018-0001470 EUDRA CT 2020-000250-94"]}],"id":[{"id":"10.13039\/501100003197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002996","name":"Dutch Heart Foundation","doi-asserted-by":"crossref","award":["03-003-2021-T061"],"award-info":[{"award-number":["03-003-2021-T061"]}],"id":[{"id":"10.13039\/501100002996","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In the early nineties, few years before the birth of Europace, the clinical and scientific world of familial arrhythmogenic conditions was revolutionized by the identification of the first disease-causing genes. The explosion of genetic studies over a 15-year period led to the discovery of major disease-causing genes in practically all channelopathies and cardiomyopathies, bringing insight into the pathophysiological mechanisms of these conditions. The birth of next generation sequencing allowed a further step forward and other significant genes, as CALM1\u20133 in channelopathies and FLN C and TTN in cardiomyopathies were identified. Genotype\u2013phenotype studies allowed the implementation of the genetic results in diagnosis, risk stratification, and therapeutic management with a different level of evidence in different arrhythmogenic conditions. The influence of common genetic variants, i.e. SNPs, on disease manifestation was proved in mid-twenties, and in the last 10 years with the advent of genome-wide association studies performed in familial arrhythmogenic diseases, the concept of polygenic risk score has been consolidated. Now, we are at the start of another amazing phase, i.e. the initiation of first gene therapy clinical trials.<\/jats:p>","DOI":"10.1093\/europace\/euad180","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T11:14:20Z","timestamp":1692962060000},"source":"Crossref","is-referenced-by-count":65,"title":["From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies"],"prefix":"10.1093","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8739-6527","authenticated-orcid":false,"given":"Lia","family":"Crotti","sequence":"first","affiliation":[{"name":"Department of Medicine and Surgery, University of Milano-Bicocca , Milan, Piazza dell'Ateneo Nuovo, 1 - 20126 , Italy"},{"name":"IRCCS Istituto Auxologico Italiano, Department of Cardiology, Cardiomyopathy Unit, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics , Piazzale Brescia, 20, 20149 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3172-6106","authenticated-orcid":false,"given":"Pedro","family":"Brugada","sequence":"additional","affiliation":[{"name":"Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart , Laarbeeklaan 101, Brussels 1090 , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9262-9433","authenticated-orcid":false,"given":"Hugh","family":"Calkins","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine , Baltimore, MD , 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London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2863-9159","authenticated-orcid":false,"given":"Pieter G","family":"Postema","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Amsterdam University Medical Centers, location University of Amsterdam , Meibergdreef 9, Amsterdam , the Netherlands"},{"name":"Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias , Amsterdam , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5492-8619","authenticated-orcid":false,"given":"Vincent","family":"Probst","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Nantes, Nantes Universit\u00e9, CNRS, INSERM, l'institut du thorax , Nantes , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0367-1048","authenticated-orcid":false,"given":"Peter 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