{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,7]],"date-time":"2024-07-07T07:06:49Z","timestamp":1720336009633},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2625,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Twenty different point mutations have been identified in the gene coding for the \u03b1 subunit of the adult skeletal muscle sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium\u2010aggravated myotonias. One novel mutation (Val781Ile) was reported in an adopted boy with potassium\u2010sensitive weakness and cardiac dysrhythmia. The confidence in establishing this rare amino acid substitution as a causative mutation was limited by the absence of family members for segregation analysis. Functional expression studies herein show that Val781Ile is most likely a benign polymorphism and not a disese\u2010associated mutation.<\/jats:p>","DOI":"10.1002\/ana.410420219","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:04:12Z","timestamp":1104591852000},"page":"253-256","source":"Crossref","is-referenced-by-count":8,"title":["A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism"],"prefix":"10.1002","volume":"42","author":[{"given":"Donnella S.","family":"Green","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence J.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Alfred L.","family":"George","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen C.","family":"Cannon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(96)81859-5"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90345-3"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540110113011"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90168-Q"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90321-H"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79219-6"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(97)78768-X"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370320"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310203"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.26.12785"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.6.745"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330312"},{"key":"e_1_2_1_14_2","first-page":"1074","article-title":"Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene","volume":"52","author":"Wang J","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350313"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410420219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410420219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T06:25:38Z","timestamp":1698474338000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410420219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,8]]}},"alternative-id":["10.1002\/ana.410420219"],"URL":"https:\/\/doi.org\/10.1002\/ana.410420219","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}