{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T05:37:48Z","timestamp":1775885868972,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad\u2010based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carriers have low\u2010amplitude T waves with high incidences of notches.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe three members of a family with the same LQTS2 pathogenic variant, but different surface ECG findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case shows ECG differences may also occur between family members who have pathogenic variants associated with long QT syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2079","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T11:35:44Z","timestamp":1666956944000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Same family, same mutation, different <scp>ECG<\/scp>"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7716-6143","authenticated-orcid":false,"given":"K\u00fcr\u015fat","family":"Akbu\u011fa","sequence":"first","affiliation":[{"name":"Cardiology Department, Faculty of Medicine TOBB ETU  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5401-1149","authenticated-orcid":false,"given":"Mustafa","family":"Karanfil","sequence":"additional","affiliation":[{"name":"Cardiology Clinic Ankara City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000440608"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.05.021"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.111.962019"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11517-006-0061-1"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jelectrocard.2006.05.017"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.23.2849"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T20:08:44Z","timestamp":1692562124000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,28]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/mgg3.2079"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2079","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,28]]},"assertion":[{"value":"2022-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2079"}}