{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T03:54:21Z","timestamp":1777434861558,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>In Western countries, thyrotoxic periodic paralysis (TPP) is a rare condition with only sporadic cases described so far. Here, we describe a 29-year-old Italian man who presented with leg weakness and hypokalaemia. Treatment with intravenous potassium resulted in a rapid resolution of symptoms. TPP as the underlying cause was suggested by suppressed thyroid-stimulating hormone (TSH), elevated free T3 and free T4, and the presence of TSH-receptor antibodies (TRAB). Genetic analysis showed no mutations in the candidate exons of calcium ( CACN1AS), potassium ( KCNE3) and sodium ( SCN4A) channel genes. However, we identified the presence of two single nucleotide polymorphisms (SNPs), 1491C &gt; T and 1551 T &gt; C, in exon 11 of the CACN1AS gene. Although the 1491C &gt; T SNP is not apparently involved in the pathogenesis of the disease, the 1551 T &gt; C SNP has been associated with TPP in Asians and reported in only one case in European Caucasians. Further investigations are needed to clarify whether such polymorphisms have a role in the disease pathogenesis in Caucasians.<\/jats:p>","DOI":"10.1258\/acb.2007.007117","type":"journal-article","created":{"date-parts":[[2008,3,2]],"date-time":"2008-03-02T19:31:35Z","timestamp":1204486295000},"page":"218-220","source":"Crossref","is-referenced-by-count":5,"title":["Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis"],"prefix":"10.1177","volume":"45","author":[{"given":"Francesco","family":"Vendrame","sequence":"first","affiliation":[{"name":"Diabetes Research Institute, Miller School of Medicine, University of Miami, Miami, FL 33136,USA"},{"name":"Department of Clinical Sciences, University \u2018La Sapienza\u2019, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Verrienti","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, University \u2018La Sapienza\u2019, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Parlapiano","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, University \u2018La Sapienza\u2019, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Filetti","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, University \u2018La Sapienza\u2019, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Dotta","sequence":"additional","affiliation":[{"name":"Diabetes Unit, Department of Internal Medicine, Endocrine and Metabolic Sciences and Biochemistry, University of Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna","family":"Morano","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, University \u2018La Sapienza\u2019, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2008,3,1]]},"reference":[{"key":"bibr-ACB-07-117C1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0356"},{"key":"bibr-ACB-07-117C2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jemermed.2004.08.020"},{"key":"bibr-ACB-07-117C3","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-17-12-1454"},{"key":"bibr-ACB-07-117C4","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5538.451"},{"key":"bibr-ACB-07-117C5","first-page":"222","volume":"15","author":"Reisin RC","year":"2000","journal-title":"Neurologia"},{"key":"bibr-ACB-07-117C6","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199205000-00001"},{"key":"bibr-ACB-07-117C7","doi-asserted-by":"publisher","DOI":"10.4158\/EP.4.3.142"},{"key":"bibr-ACB-07-117C8","doi-asserted-by":"publisher","DOI":"10.1136\/emj.19.1.78"},{"key":"bibr-ACB-07-117C9","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.57.666.238"},{"key":"bibr-ACB-07-117C10","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.75.882.193"},{"key":"bibr-ACB-07-117C11","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90135-X"},{"key":"bibr-ACB-07-117C12","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00207-0"},{"key":"bibr-ACB-07-117C13","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.9.1932"},{"key":"bibr-ACB-07-117C14","first-page":"293","volume":"42","author":"Didonna D","year":"2000","journal-title":"Panminerva Med"},{"key":"bibr-ACB-07-117C15","doi-asserted-by":"publisher","DOI":"10.1007\/BF00713857"},{"key":"bibr-ACB-07-117C16","doi-asserted-by":"publisher","DOI":"10.1007\/BF03347807"},{"key":"bibr-ACB-07-117C17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030924"},{"key":"bibr-ACB-07-117C18","doi-asserted-by":"publisher","DOI":"10.1089\/105072504773297858"},{"key":"bibr-ACB-07-117C19","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh328"},{"key":"bibr-ACB-07-117C20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020698"},{"key":"bibr-ACB-07-117C21","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000119392.29624.88"},{"key":"bibr-ACB-07-117C22","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01481.x"},{"key":"bibr-ACB-07-117C23","first-page":"139","volume":"63","author":"Schalin-Jantti C","year":"2005","journal-title":"Horm Res"}],"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/acb.2007.007117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1258\/acb.2007.007117","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/acb.2007.007117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:54:57Z","timestamp":1777377297000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1258\/acb.2007.007117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1258\/acb.2007.007117"],"URL":"https:\/\/doi.org\/10.1258\/acb.2007.007117","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}