{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T15:07:56Z","timestamp":1785424076418,"version":"3.56.0"},"reference-count":8,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"unspecified","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Jervell and Lange-Nielsen syndrome is a rare inherited disorder characterised by sensorineural hearing loss and a prolonged corrected QT interval, predisposing to malignant arrhythmias. We describe two adult sisters diagnosed after recurrent syncope. Genetic testing confirmed a homozygous KCNQ1 mutation. Awareness of this condition, even in adulthood, is essential to ensure diagnosis, appropriate treatment, and prevention of sudden cardiac death.<\/jats:p>","DOI":"10.1017\/s1047951126112050","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T11:14:49Z","timestamp":1775474089000},"page":"832-834","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Late diagnosis of Jervell and Lange-Nielsen syndrome in two sisters with homozygous KCNQ1 mutation"],"prefix":"10.1017","volume":"36","author":[{"given":"Peruze","family":"Kocaekiz","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01etz1309","id-type":"ROR","asserted-by":"publisher"}],"name":"Pamukkale University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onur","family":"Tokgun","sequence":"additional","affiliation":[{"name":"Pamukkale University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8445-1911","authenticated-orcid":false,"given":"Samet","family":"Yilmaz","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01etz1309","id-type":"ROR","asserted-by":"publisher"}],"name":"Pamukkale University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2026,4,6]]},"reference":[{"key":"S1047951126112050_ref6","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.hrthm.2013.05.014","article-title":"HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes","volume":"10","author":"Ackerman","year":"2013","journal-title":"Heart Rhythm"},{"key":"S1047951126112050_ref8","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.879643"},{"key":"S1047951126112050_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.592899"},{"key":"S1047951126112050_ref7","first-page":"e41","article-title":"Clinical spectrum of type 1 long-QT syndrome: clinical diagnosis, management, and prognosis","volume":"15","author":"Wilde","year":"2018","journal-title":"Heart Rhythm"},{"key":"S1047951126112050_ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38062"},{"key":"S1047951126112050_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(57)90079-0"},{"key":"S1047951126112050_ref3","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/eus111"},{"key":"S1047951126112050_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2016.09.012"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951126112050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T10:56:20Z","timestamp":1780397780000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951126112050\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["S1047951126112050"],"URL":"https:\/\/doi.org\/10.1017\/s1047951126112050","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"\u00a9 The Author(s), 2026. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}