{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T23:07:07Z","timestamp":1788217627601,"version":"build-2803163510"},"reference-count":37,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","internationaljournalofcardiology.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1016\/j.ijcard.2016.06.081","type":"journal-article","created":{"date-parts":[[2016,6,25]],"date-time":"2016-06-25T12:12:33Z","timestamp":1466856753000},"page":"290-298","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"special_numbering":"C","title":["Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current"],"prefix":"10.1016","volume":"220","author":[{"given":"Andrew P.","family":"Landstrom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole J.","family":"Boczek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina Y.","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caridad M.","family":"De la Uz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh D.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Ackerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey J.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2016.06.081_bb0005","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/415198a","article-title":"Cardiac excitation\u2013contraction coupling","volume":"415","author":"Bers","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0010","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1161\/CIRCRESAHA.110.224279","article-title":"Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel","volume":"108","author":"Napolitano","year":"2011","journal-title":"Circ. Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0015","first-page":"54","article-title":"The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet","volume":"60","author":"Reichenbach","year":"1992","journal-title":"Kinderarztl. Prax."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0020","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/S0002-9149(99)80216-1","article-title":"Long QT syndrome associated with syndactyly identified in females","volume":"76","author":"Marks","year":"1995","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0025","doi-asserted-by":"crossref","first-page":"8089","DOI":"10.1073\/pnas.0502506102","article-title":"Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations","volume":"102","author":"Splawski","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0030","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0035","series-title":"Cardiology Essentials: Evaluation, Management and Case Studies New York","article-title":"Role of genetic testing in athletes in sports","author":"Landstrom","year":"2011"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0040","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.hrthm.2005.01.020","article-title":"Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing","volume":"2","author":"Tester","year":"2005","journal-title":"Heart Rhythm."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0045","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1161\/CIRCEP.115.002745","article-title":"Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death","volume":"8","author":"Boczek","year":"2015","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0050","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.cell.2014.09.002","article-title":"A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases","volume":"159","author":"Yamamoto","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0055","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0060","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2105-13-8","article-title":"An integrative variant analysis suite for whole exome next-generation sequencing data","volume":"13","author":"Challis","year":"2012","journal-title":"BMC Bioinforma."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0065","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0070","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1092 human genomes","volume":"491","author":"Consortium","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0075","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature11690","article-title":"Analysis of 6515 exomes reveals the recent origin of most human protein-coding variants","volume":"493","author":"Fu","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0080","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","author":"Lek","year":"2015","journal-title":"bioRxiv"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0085","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0090","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0095","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1093\/bioinformatics\/btl423","article-title":"Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information","volume":"22","author":"Capriotti","year":"2006","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0100","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003440","article-title":"PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations","volume":"10","author":"Bendl","year":"2014","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0105","doi-asserted-by":"crossref","first-page":"10881","DOI":"10.1093\/nar\/16.22.10881","article-title":"Multiple sequence alignment with hierarchical clustering","volume":"16","author":"Corpet","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0110","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/328313a0","article-title":"Primary structure of the receptor for calcium channel blockers from skeletal muscle","volume":"328","author":"Tanabe","year":"1987","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0115","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1161\/CIRCULATIONAHA.106.668392","article-title":"Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death","volume":"115","author":"Antzelevitch","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0120","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.1540-8159.2009.02642.x","article-title":"Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome","volume":"33","author":"Hu","year":"2010","journal-title":"Pacing Clin. Electrophysiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0125","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1161\/CIRCGENETICS.109.898569","article-title":"A common single nucleotide polymorphism can exacerbate long QT type 2 syndrome leading to sudden infant death","volume":"3","author":"Nof","year":"2010","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0130","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.hrthm.2010.11.034","article-title":"A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations","volume":"8","author":"Shinlapawittayatorn","year":"2011","journal-title":"Heart Rhythm."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0135","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.cardiores.2005.03.007","article-title":"Atrial fibrillation-associated minK38G\/S polymorphism modulates delayed rectifier current and membrane localization","volume":"67","author":"Ehrlich","year":"2005","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0140","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.hrthm.2014.09.051","article-title":"Novel Timothy syndrome mutation leading to increase in CACNA1C window current","volume":"12","author":"Boczek","year":"2015","journal-title":"Heart Rhythm."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0145","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.molmed.2014.02.004","article-title":"The junctophilin family of proteins: from bench to bedside","volume":"20","author":"Landstrom","year":"2014","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0150","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1016\/j.yjmcc.2007.04.006","article-title":"Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans","volume":"42","author":"Landstrom","year":"2007","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0155","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1161\/CIRCULATIONAHA.110.006437","article-title":"Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice","volume":"123","author":"van Oort","year":"2011","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0160","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1016\/j.jacc.2013.06.052","article-title":"Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization","volume":"62","author":"Beavers","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0165","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1172\/JCI0215570","article-title":"Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation","volume":"110","author":"Grant","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0170","first-page":"2219","article-title":"The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome","volume":"118","author":"Makita","year":"2008","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0175","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1161\/CIRCEP.115.003098","article-title":"Loss-of-function SCN5A mutations associated with sinus node dysfunction, atrial arrhythmias, and poor pacemaker capture","volume":"8","author":"Chiang","year":"2015","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"10.1016\/j.ijcard.2016.06.081_bb0180","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/ajmg.a.34355","article-title":"Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome","volume":"158A","author":"Gillis","year":"2012","journal-title":"Am. J. Hum. Genet. A"},{"key":"10.1016\/j.ijcard.2016.06.081_bb0185","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.yjmcc.2015.01.002","article-title":"Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome","volume":"80","author":"Wemh\u00f6ner","year":"2015","journal-title":"J. Mol. Cell. Cardiol."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527316310877?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527316310877?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T04:50:28Z","timestamp":1656737428000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527316310877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":37,"alternative-id":["S0167527316310877"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2016.06.081","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2016.06.081","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}