{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T22:07:25Z","timestamp":1772834845912,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,26]],"date-time":"2017-12-26T00:00:00Z","timestamp":1514246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1S<\/jats:italic> encodes Ca<jats:sub>v<\/jats:sub>1.1, a voltage sensor for muscle excitation\u2212contraction coupling, which activates the ryanodine receptor 1 (<jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>1) leading to calcium release from the sarcoplasmic reticulum. <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1S<\/jats:italic> mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. <jats:italic><jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>1<\/jats:italic> mutations result in congenital myopathy, malignant hyperthermia and rhabdomyolysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The aim was to describe a novel phenotype associated with a <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1S<\/jats:italic> variant at a site previously linked to hypokalemic periodic paralysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with fluctuating asymptomatic creatine kinase elevation after an episode of rhabdomyolysis but has no history of periodic paralysis. His muscle biopsy showed core\u2010like structures occurring mainly in type 2 fibers. He carries a novel Ca<jats:sub>v<\/jats:sub>1.1 variant (p.Arg528Leu) affecting a highly conserved amino acid. Different mutations at the same location cause hypokalemic periodic paralysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case underscores the similarity between the phenotypes caused by mutations in two functionally linked proteins, <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>1 and Ca<jats:sub>v<\/jats:sub>1.1.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13528","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T17:34:02Z","timestamp":1511976842000},"page":"417-419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Rhabdomyolysis and fluctuating asymptomatic hyper<scp>CK<\/scp>emia associated with <i><scp>CACNA<\/scp>1S<\/i> variant"],"prefix":"10.1111","volume":"25","author":[{"given":"C.","family":"Anandan","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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S.","family":"Laughlin","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA"},{"name":"Department of Clinical Genomics Mayo Clinic Rochester MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4338-9007","authenticated-orcid":false,"given":"M.","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester MN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19321"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90135-X"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/515454"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt300"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1656-8"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/aew065"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c140062"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2490-14-96"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560406"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1119207109"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00008.2010"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00173.2004"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/aew047"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.06.001"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.13528","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13528","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.13528","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13528","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:52:21Z","timestamp":1693356741000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.13528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,26]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/ene.13528"],"URL":"https:\/\/doi.org\/10.1111\/ene.13528","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,26]]},"assertion":[{"value":"2017-08-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}