{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T23:38:02Z","timestamp":1722123482048},"reference-count":3,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,10,23]],"date-time":"2013-10-23T00:00:00Z","timestamp":1382486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:p>We describe the case of a 14\u2010year\u2010old girl with a history of syncopal episodes triggered by stress or exercise. Catecholaminergic polymorphic ventricular tachycardia was diagnosed with the aid of an implantable loop recorder. The genetic testing of the patient and her family revealed a de novo novel missense mutation (Ser4155Tyr) in the exon 90 of the ryanodine receptor gene. This mutation affects a highly conserved residue (S4155) and results to replacement of serine (S) with tyrosine (Y) leading to change in physical and chemical properties. The girl was treated with an implantable defibrillator, metoprolol and flecainide. Over 1 year of follow\u2010up she had no recurrence of ventricular tachycardia.<\/jats:p>","DOI":"10.1111\/anec.12089","type":"journal-article","created":{"date-parts":[[2013,10,23]],"date-time":"2013-10-23T15:53:42Z","timestamp":1382543622000},"page":"571-576","source":"Crossref","is-referenced-by-count":2,"title":["A De Novo Novel Cardiac Ryanodine Mutation (Ser4155Tyr) Associated with Catecholaminergic Polymorphic Ventricular Tachycardia"],"prefix":"10.1111","volume":"18","author":[{"given":"Lilian","family":"Mantziari","sequence":"first","affiliation":[{"name":"First Cardiology Department, AHEPA University Hospital Aristotle University of Thessaloniki  Greece"},{"name":"Royal Brompton Hospital and Harefield NHS Trust  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilios","family":"Vassilikos","sequence":"additional","affiliation":[{"name":"First Cardiology Department, AHEPA University Hospital Aristotle University of Thessaloniki  Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aris","family":"Anastasakis","sequence":"additional","affiliation":[{"name":"Cardiac Code Unit  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xanthippi","family":"Kotsaka","sequence":"additional","affiliation":[{"name":"Cardiac Code Unit  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stelios","family":"Paraskevaidis","sequence":"additional","affiliation":[{"name":"First Cardiology Department, AHEPA University Hospital Aristotle University of Thessaloniki  Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioannis H","family":"Styliadis","sequence":"additional","affiliation":[{"name":"First Cardiology Department, AHEPA University Hospital Aristotle University of Thessaloniki  Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Luria","sequence":"additional","affiliation":[{"name":"Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,10,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.08.022"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2011.01.048"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jelectrocard.2011.07.025"}],"container-title":["Annals of Noninvasive Electrocardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fanec.12089","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/anec.12089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T10:54:51Z","timestamp":1696589691000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/anec.12089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,23]]},"references-count":3,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1111\/anec.12089"],"URL":"https:\/\/doi.org\/10.1111\/anec.12089","archive":["Portico"],"relation":{},"ISSN":["1082-720X","1542-474X"],"issn-type":[{"value":"1082-720X","type":"print"},{"value":"1542-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,23]]}}}