{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:51:54Z","timestamp":1760784714345},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T00:00:00Z","timestamp":1570579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Andersen\u2010Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, ventricular arrhythmias, and dysmorphism. However, patients often lack one or more of these features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and neurophysiological features were reviewed of five members in two families with heterozygous mutations in <jats:italic>KCNJ2<\/jats:italic> (R218Q and R67W).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only one patient had all features of the triad of ATS. One patient had low\u2010set ears, and the others had minor anomalies. Bidirectional ventricular tachycardias were seen in two patients. Two patients (R67W) never had episodes of paralysis. The long exercise test was abnormal in three patients with episodes of paralysis, but normal in two without paralytic episodes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>ATS patients without skeletal muscle symptoms can have normal neurophysiological examinations. They can show variability in phenotype or the severity of arrhythmias. Such variability among patients who share the same gene mutations may result in underdiagnosis of ATS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26705","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T15:43:29Z","timestamp":1568216609000},"page":"752-757","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and neurophysiological variability in Andersen\u2010Tawil syndrome"],"prefix":"10.1002","volume":"60","author":[{"given":"Norito","family":"Kokubun","sequence":"first","affiliation":[{"name":"Department of Neurology Dokkyo Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reika","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Neurology Dokkyo Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahide","family":"Nagashima","sequence":"additional","affiliation":[{"name":"Department of Neurology Dokkyo Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Komagamine","sequence":"additional","affiliation":[{"name":"Department of Neurology Dokkyo Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Cardiology Shizuoka Saiseikai General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoru","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine Shiga University of Medical Science  Shiga Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Hirata","sequence":"additional","affiliation":[{"name":"Department of Neurology Dokkyo Medical University  Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh639"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9483"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/342360"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.3.352"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22238"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25169"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20241"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20905"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20865"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.962316"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2006.10.025"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15183"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31092"},{"key":"e_1_2_9_17_1","first-page":"672","article-title":"Gender difference in the cycle length\u2010dependent QT and potassium currents in rabbits","volume":"285","author":"Liu XK","year":"1998","journal-title":"J Pharmacol Exp Ther."},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000072261.14060.47"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.013870"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26705","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26705","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26705","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:05:03Z","timestamp":1694217903000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26705"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,9]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/mus.26705"],"URL":"https:\/\/doi.org\/10.1002\/mus.26705","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,9]]},"assertion":[{"value":"2019-03-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}