{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:35:54Z","timestamp":1745469354906,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in &lt;i&gt;KCNJ2,&lt;\/i&gt; encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although &lt;i&gt;KCNJ2&lt;\/i&gt; mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in most ATS1 cases. In contrast, here we describe an Italian ATS1 patient, carrying a c.574A\u2192G mutation in &lt;i&gt;KCNJ2,&lt;\/i&gt; who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.<\/jats:p>","DOI":"10.1159\/000335529","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T12:16:56Z","timestamp":1327580216000},"page":"200-203","source":"Crossref","is-referenced-by-count":3,"title":["Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A\u2192G Mutation in &lt;i&gt;KCNJ2&lt;\/i&gt;"],"prefix":"10.1159","volume":"120","author":[{"given":"Anna","family":"Modoni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Laura Ester","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Vitulano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Pagliarani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Perna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommaso","family":"Sanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,1,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1651-2227.1971.tb06990.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410350313"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410420306"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawh639"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2FS0092-8674%2801%2900342-7"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1080%2F17431380410032490"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00424-010-0820-6"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1161%2FCIRCULATIONAHA.104.472498"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9483"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31092"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212%2F01.wnl.0000178888.03767.74"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000019906.35135.A3"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335529","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335529","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:58:13Z","timestamp":1745434693000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000335529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2012,3,1]]},"published-print":{"date-parts":[[2012,3,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000335529","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5123173","asserted-by":"subject"}]},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"type":"print","value":"0008-6312"},{"type":"electronic","value":"1421-9751"}],"subject":[],"published":{"date-parts":[[2011]]}}}