{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T16:57:04Z","timestamp":1785430624879,"version":"3.56.0"},"reference-count":27,"publisher":"Life Science Alliance, LLC","issue":"8","license":[{"start":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T00:00:00Z","timestamp":1716336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["U19HD077693"],"award-info":[{"award-number":["U19HD077693"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["life-science-alliance.org"],"crossmark-restriction":true},"short-container-title":["Life Sci. Alliance"],"accepted":{"date-parts":[[2024,5,13]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>\n                    Pathogenic and likely pathogenic variants in the\n                    <jats:italic>TECRL<\/jats:italic>\n                    gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in\n                    <jats:italic>TECRL<\/jats:italic>\n                    (c.915T&gt;G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of\n                    <jats:italic>TECRL<\/jats:italic>\n                    (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.\n                  <\/jats:p>","DOI":"10.26508\/lsa.202402572","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T13:05:24Z","timestamp":1716383124000},"page":"e202402572","update-policy":"https:\/\/doi.org\/10.26508\/lsa.crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Novel variants in\n                    <i>TECRL<\/i>\n                    leading to catecholaminergic polymorphic ventricular tachycardia"],"prefix":"10.26508","volume":"7","author":[{"given":"Douglas","family":"Jones","sequence":"first","affiliation":[{"name":"Rady Children\u2019s Hospital, San Diego, CA, USA"},{"id":[{"id":"https:\/\/ror.org\/0168r3w48","id-type":"ROR","asserted-by":"publisher"}],"name":"Division of Pediatric Critical Care, Department of Pediatrics, University of California, San Diego","place":[", CA, 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