{"id":"https://openalex.org/W237976869","doi":null,"title":"An investigation of the clinical profile and extent of Long QT Syndrome (LQTS) associated with the KCNQ1-A341V mutation in South Africa and with the KCNH2-A1116V mutation in an Italian family and the role that autonomic nervous system (ANS) activity and genetics play in clinical variability.","display_name":"An investigation of the clinical profile and extent of Long QT Syndrome (LQTS) associated with the KCNQ1-A341V mutation in South Africa and with the KCNH2-A1116V mutation in an Italian family and the role that autonomic nervous system (ANS) activity and genetics play in clinical variability.","publication_year":2007,"publication_date":"2007-12-01","ids":{"openalex":"https://openalex.org/W237976869","mag":"237976869"},"language":"en","primary_location":{"id":"pmh:oai:scholar.sun.ac.za:10019.1/1417","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10019.1/1417","pdf_url":"http://hdl.handle.net/10019.1/1417","source":{"id":"https://openalex.org/S4306400300","display_name":"SUNScholar (Stellenbosch University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I26092322","host_organization_name":"Stellenbosch University","host_organization_lineage":["https://openalex.org/I26092322"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10019.1/1417","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021994330","display_name":"Lia Crotti","orcid":"https://orcid.org/0000-0001-8739-6527","observed_orcids":["https://orcid.org/0000-0001-8739-6527","https://orcid.org/0000-0002-5728-3158"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Lia Crotti","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8739-6527","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5021994330"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11217","display_name":"Cardiac Arrhythmias and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/long-qt-syndrome","display_name":"long QT syndrome","score":0.9810000061988831},{"id":"https://openalex.org/keywords/kcnq1","display_name":"KCNQ1","score":0.859000027179718},{"id":"https://openalex.org/keywords/kcnh2","display_name":"KCNH2","score":0.9589999914169312},{"id":"https://openalex.org/keywords/autonomic-activity","display_name":"autonomic nervous system activity","score":0.8759999871253967},{"id":"https://openalex.org/keywords/clinical-heterogeneity","display_name":"clinical heterogeneity","score":0.9369999766349792},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.3240000009536743},{"id":"https://openalex.org/keywords/south-africa","display_name":"South Africa","score":0.421999990940094},{"id":"https://openalex.org/keywords/italian-families","display_name":"Italian families","score":0.8629999756813049}],"concepts":[{"id":"https://openalex.org/C2779703243","wikidata":"https://www.wikidata.org/wiki/Q653924","display_name":"Long QT syndrome","level":3,"score":0.82813960313797},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5724735260009766},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46362757682800293},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3707888126373291},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3070249557495117},{"id":"https://openalex.org/C118441451","wikidata":"https://www.wikidata.org/wiki/Q12074763","display_name":"QT interval","level":2,"score":0.26563093066215515},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1919783651828766},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06316927075386047}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:scholar.sun.ac.za:10019.1/1417","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10019.1/1417","pdf_url":"http://hdl.handle.net/10019.1/1417","source":{"id":"https://openalex.org/S4306400300","display_name":"SUNScholar (Stellenbosch University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I26092322","host_organization_name":"Stellenbosch University","host_organization_lineage":["https://openalex.org/I26092322"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"mag:237976869","doi":null,"is_oa":false,"landing_page_url":"http://scholar.sun.ac.za/bitstream/10019.1/1417/3/crotti_investigation_2007.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:scholar.sun.ac.za:10019.1/1417","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10019.1/1417","pdf_url":"http://hdl.handle.net/10019.1/1417","source":{"id":"https://openalex.org/S4306400300","display_name":"SUNScholar (Stellenbosch University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I26092322","host_organization_name":"Stellenbosch University","host_organization_lineage":["https://openalex.org/I26092322"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W237976869.pdf","grobid_xml":"https://content.openalex.org/works/W237976869.grobid-xml"},"referenced_works_count":71,"referenced_works":["https://openalex.org/W60084911","https://openalex.org/W120954187","https://openalex.org/W1481497811","https://openalex.org/W1966896157","https://openalex.org/W1970365812","https://openalex.org/W1978173498","https://openalex.org/W1984486892","https://openalex.org/W1988015754","https://openalex.org/W1990039263","https://openalex.org/W1991751851","https://openalex.org/W1995033447","https://openalex.org/W1996802734","https://openalex.org/W2000453414","https://openalex.org/W2002422701","https://openalex.org/W2003770581","https://openalex.org/W2003918316","https://openalex.org/W2004964064","https://openalex.org/W2008125074","https://openalex.org/W2009667219","https://openalex.org/W2009822524","https://openalex.org/W2010302358","https://openalex.org/W2018923091","https://openalex.org/W2019973925","https://openalex.org/W2022414157","https://openalex.org/W2022968719","https://openalex.org/W2034646721","https://openalex.org/W2035197728","https://openalex.org/W2036038468","https://openalex.org/W2044229618","https://openalex.org/W2046508780","https://openalex.org/W2048986605","https://openalex.org/W2055012964","https://openalex.org/W2055822961","https://openalex.org/W2059995944","https://openalex.org/W2066742955","https://openalex.org/W2067613942","https://openalex.org/W2073709523","https://openalex.org/W2082626069","https://openalex.org/W2084606962","https://openalex.org/W2084756418","https://openalex.org/W2085199612","https://openalex.org/W2091298387","https://openalex.org/W2093985320","https://openalex.org/W2095963943","https://openalex.org/W2099195016","https://openalex.org/W2108221570","https://openalex.org/W2109804646","https://openalex.org/W2111121698","https://openalex.org/W2113200857","https://openalex.org/W2113403889","https://openalex.org/W2113868537","https://openalex.org/W2114460071","https://openalex.org/W2121258530","https://openalex.org/W2121677695","https://openalex.org/W2123322978","https://openalex.org/W2127696835","https://openalex.org/W2128029952","https://openalex.org/W2133151374","https://openalex.org/W2133663070","https://openalex.org/W2138773108","https://openalex.org/W2140123506","https://openalex.org/W2145912168","https://openalex.org/W2145940656","https://openalex.org/W2152031596","https://openalex.org/W2156048327","https://openalex.org/W2156937709","https://openalex.org/W2160137065","https://openalex.org/W2164608717","https://openalex.org/W2167208958","https://openalex.org/W2193086484","https://openalex.org/W2334363451"],"related_works":["https://openalex.org/W2163531917","https://openalex.org/W2997755047","https://openalex.org/W123584232","https://openalex.org/W7098274142","https://openalex.org/W2119161672","https://openalex.org/W2625724845","https://openalex.org/W2126217314","https://openalex.org/W2143411193","https://openalex.org/W2043748058","https://openalex.org/W2098642395"],"abstract_inverted_index":{"LQTS)":[0],"associated":[1],"with":[2,10],"the":[3,11,18],"KCNQ1-A341V":[4],"mutation":[5,13],"in":[6,14,29],"South":[7],"Africa":[8],"and":[9,17,26],"KCNH2-A1116V":[12],"an":[15],"Italianfamily":[16],"role":[19],"that":[20],"autonomic":[21],"nervous":[22],"system":[23],"(ANS)":[24],"activity":[25],"genetics":[27],"play":[28],"clinical":[30],"variability.":[31]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
