{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:28:14Z","timestamp":1791217694416,"version":"4.1.0"},"reference-count":12,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"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":["J Child Neurol"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:p>Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distinct clinical features of periodic paralysis, cardiac arrhythmia, and facial and skeletal dysmorphisms and exhibits autosomal dominant inheritance. Mutations in the KCNJ2 gene, which encodes the human inward rectifier potassium channel Kir2.1, have been identified in the majority of cases. Despite well-established clinical and molecular characteristics, treatment is still case oriented, and timely diagnosis could be delayed because of the low incidence and phenotypic heterogeneity of this disease. This article describes the clinical and molecular features of 3 cases of Andersen-Tawil syndrome in 2 families. One of the mutations (G144D) was located in the pore selectivity filter residue (which is mutated recurrently) and was considered novel. Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies.<\/jats:p>","DOI":"10.1177\/0883073809357937","type":"journal-article","created":{"date-parts":[[2010,4,9]],"date-time":"2010-04-09T20:55:52Z","timestamp":1270846552000},"page":"490-493","source":"Crossref","is-referenced-by-count":8,"title":["Andersen Cardiodysrhythmic Periodic Paralysis With\n                    <i>KCNJ2<\/i>\n                    Mutations: A Novel Mutation in the Pore Selectivity Filter Residue"],"prefix":"10.1177","volume":"25","author":[{"given":"Byung Chan","family":"Lim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gi Beom","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Jung","family":"Bae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung Il","family":"Noh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Seung","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Sung","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,4,9]]},"reference":[{"key":"bibr-0","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420306"},{"key":"bibr-1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350313"},{"key":"bibr-2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"bibr-3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9483"},{"key":"bibr-4","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000178888.03767.74"},{"key":"bibr-5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040816"},{"key":"bibr-6","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000072261.14060.47"},{"key":"bibr-7","doi-asserted-by":"publisher","DOI":"10.1080\/17431380410032490"},{"key":"bibr-8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9418"},{"key":"bibr-9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2828(03)00046-4"},{"key":"bibr-10","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh639"},{"key":"bibr-11","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.005"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809357937","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073809357937","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:08Z","timestamp":1777494908000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073809357937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1177\/0883073809357937"],"URL":"https:\/\/doi.org\/10.1177\/0883073809357937","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4]]}}}