{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-JPZFOJ85/898aa78e-83b7-40e7-aea0-d628e9261667/HTML","dcterms:extent":"18 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-JPZFOJ85/c3f9fb13-8c52-49fe-80e2-84f84b99830d/PDF","dcterms:extent":"236 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-JPZFOJ85/f079407e-77d5-40c2-97b7-f51afe44b68e/TEXT","dcterms:extent":"17 KB"}],"edm:TimeSpan":{"@rdf:about":"1929-2026","edm:begin":{"@xml:lang":"en","#text":"1929"},"edm:end":{"@xml:lang":"en","#text":"2026"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-JPZFOJ85","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/urn:nbn:si:spr-a30mfzkp"},{"@xml:lang":"sl","#text":"Zdravniški vestnik"}],"dcterms:issued":"2013","dc:creator":["Antolič, Bor","Debeljak, Maruša","Jan, Matevž","Kovač, Jernej","Pernat, Andrej","Šinkovec, Matjaž","Trebušak Podkrajšek, Katarina"],"dc:format":[{"@xml:lang":"sl","#text":"številka:1"},{"@xml:lang":"sl","#text":"letnik:82"},{"@xml:lang":"sl","#text":"str. 55-60"}],"dc:identifier":["ISSN:1318-0347","COBISSID:740524","URN:URN:NBN:SI:doc-JPZFOJ85"],"dc:language":"en","dc:publisher":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"dc:subject":[{"@xml:lang":"sl","#text":"Andersen-Tawilov sindrom"},{"@xml:lang":"en","#text":"Anesthesia, Closed-Circuit"},{"@xml:lang":"sl","#text":"bidirekcijska prekatna tahikardija"},{"@xml:lang":"sl","#text":"genetska napaka"},{"@xml:lang":"en","#text":"Instrumentation"},{"@xml:lang":"sl","#text":"katetrska ablacija"},{"@xml:lang":"en","#text":"Methods"},{"@xml:lang":"sl","#text":"mutacija KCNJ2"}],"dcterms:temporal":{"@rdf:resource":"1929-2026"},"dc:title":{"@xml:lang":"sl","#text":"Novel KCNJ2 mutation associated with Andersen-Tawil syndrome| Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil|"},"dc:description":{"@xml:lang":"sl","#text":"Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns inelectrocardiogram, periodic paralysis, and dysmorphic features. We describe a patient of Slovenian origin who exhibited mild dysmorphic features, repetitive bidirectional and monomorphic ventricular tachycardias, and characteristic QT-U wave patterns. Ventricular arrhythmias persisted despite several catheter ablation procedures and different anti- -arrhythmic drug treatments, resulting only in pacemaker implantation and amiodarone toxicity. Cardioverter-defibrillator was implanted after a major syncopal attack. Finally, molecular genetic screening revealed a novel heterozygous mutation (c.424A>C/p. Thr142Pro) in KCNJ2 gene consistent with the ATS"},"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:doc-JPZFOJ85","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-JPZFOJ85"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-JPZFOJ85/c3f9fb13-8c52-49fe-80e2-84f84b99830d/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-JPZFOJ85/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-JPZFOJ85"}}}}