{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:08:20Z","timestamp":1780916900576,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T00:00:00Z","timestamp":1582761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T00:00:00Z","timestamp":1582761600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100012045","name":"Kawano Masanori Memorial Public Interest Incorporated Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012045","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      , encoding alpha\u20101 subunit of calcium channel. Few reports have documented the non\u2010neuromuscular phenotypes of HypoPP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The proband is a Japanese woman who developed HypoPP at 6\u00a0years of age. An excessive insulin secretion with the oral glucose tolerance test rationalized that she had experienced frequent attacks of paralysis on high\u2010carbohydrate diets.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Voglibose and acetazolamide effectively controlled her paralytic episodes. Her 8\u2010year\u2010old son and 2\u2010year\u2010old daughter started showing the paralytic symptoms from 4 and 2\u00a0years of age, respectively. Laboratory tests revealed high concentrations of creatinine kinase in serum and elevated renin activities in plasma of these children. The targeted sequencing confirmed that these three patients had an identical heterozygous mutation (p.V876E) in\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our data indicate that the p.V876E mutation in\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1175","type":"journal-article","created":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T07:48:02Z","timestamp":1582789682000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in\n                    <i>CACNA1S<\/i>"],"prefix":"10.1002","volume":"8","author":[{"given":"Mari","family":"Kurokawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Torio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Ohkubo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vlad","family":"Tocan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences 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