{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T02:13:56Z","timestamp":1789352036669,"version":"build-2803163510"},"reference-count":19,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1016\/j.ejpn.2009.08.004","type":"journal-article","created":{"date-parts":[[2009,10,13]],"date-time":"2009-10-13T05:28:22Z","timestamp":1255411702000},"page":"278-281","source":"Crossref","is-referenced-by-count":27,"title":["Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis"],"prefix":"10.1016","volume":"14","author":[{"given":"Tae-Hwan","family":"Kil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June-Bum","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2009.08.004_bib1","series-title":"Metabolic and molecular bases of inherited disease","first-page":"5223","article-title":"Channelopathies","author":"Jen","year":"2001"},{"key":"10.1016\/j.ejpn.2009.08.004_bib2","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0960-8966(97)00435-5","article-title":"Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel","volume":"7","author":"Lapie","year":"1997","journal-title":"Neuromuscl Disord"},{"key":"10.1016\/j.ejpn.2009.08.004_bib3","doi-asserted-by":"crossref","first-page":"946","DOI":"10.3346\/jkms.2007.22.6.946","article-title":"The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis","volume":"22","author":"Kim","year":"2007","journal-title":"J Korean Med Sci"},{"key":"10.1016\/j.ejpn.2009.08.004_bib4","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/brain\/124.6.1091","article-title":"Hypokalemic periodic paralysis type2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A","volume":"124","author":"Sternberg","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2009.08.004_bib5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/ng0394-267","article-title":"Mapping of hypokalemic periodic paralysis to chromosome 1q31-q32 in three European families","volume":"6","author":"Fontaine","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2009.08.004_bib6","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0960-8966(96)00401-4","article-title":"Genotype\u2013phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis","volume":"7","author":"Fouad","year":"1997","journal-title":"Neuromuscl Disord"},{"key":"10.1016\/j.ejpn.2009.08.004_bib7","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/0092-8674(94)90135-X","article-title":"Dihydropyridine receptor mutations cause hypokalemic periodic paralysis","volume":"77","author":"Ptacek","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.ejpn.2009.08.004_bib8","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/hmg\/3.8.1415","article-title":"A calcium channel mutation causing hypokalemic periodic paralysis","volume":"3","author":"Jurkat-Rott","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.08.004_bib9","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s00109-005-0638-4","article-title":"Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family","volume":"83","author":"Wang","year":"2005","journal-title":"J Mol Med"},{"key":"10.1016\/j.ejpn.2009.08.004_bib10","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/0166-2236(93)90193-P","article-title":"Structure and function of voltage-gated ion channels","volume":"16","author":"Catterall","year":"1993","journal-title":"Trends Neurosci"},{"key":"10.1016\/j.ejpn.2009.08.004_bib11","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/S0960-8966(02)00007-X","article-title":"An expanding view for the molecular basis of familial periodic paralysis","volume":"12","author":"Cannon","year":"2002","journal-title":"Neuromuscl Disord"},{"key":"10.1016\/j.ejpn.2009.08.004_bib12","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1212\/01.WNL.0000143383.91137.00","article-title":"Correlating phenotype and genotype in the periodic paralyses","volume":"63","author":"Miller","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2009.08.004_bib13","first-page":"374","article-title":"Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype\/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families","volume":"56","author":"Elbaz","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2009.08.004_bib14","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1093\/ndt\/16.5.939","article-title":"Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis","volume":"16","author":"Kim","year":"2001","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ejpn.2009.08.004_bib15","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/mus.880070205","article-title":"Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters","volume":"7","author":"R\u00fcdel","year":"1984","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ejpn.2009.08.004_bib16","first-page":"277","article-title":"Dominant-inherited hypokalemic periodic paralysis in a large Chinese family","volume":"98","author":"Yeh","year":"1999","journal-title":"J Formos Med Assoc"},{"key":"10.1016\/j.ejpn.2009.08.004_bib17","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1212\/WNL.31.11.1423","article-title":"Hypokalemic periodic paralysis exacerbated by acetazolamide","volume":"31","author":"Torres","year":"1981","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2009.08.004_bib18","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0022-510X(87)90093-1","article-title":"Hypokalemic periodic paralysis with unusual responses to acetazolamide and sympathomimetics","volume":"81","author":"Vern","year":"1987","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.ejpn.2009.08.004_bib19","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/1531-8249(200001)47:1<46::AID-ANA9>3.0.CO;2-H","article-title":"Randomized trials of dichlorphenamide in the periodic paralysis. Working group on periodic paralysis","volume":"47","author":"Tawil","year":"2000","journal-title":"Ann Neurol"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809001561?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809001561?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,15]],"date-time":"2018-12-15T22:21:21Z","timestamp":1544912481000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379809001561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["S1090379809001561"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2009.08.004","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2010,5]]}}}