{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:10:06Z","timestamp":1756361406928,"version":"3.44.0"},"reference-count":21,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,12,5]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory tests revealed severe hypokalaemia and hypokaluria. Symptoms resolution occurred after potassium replacement. The diagnosis of hypokalaemic periodic paralysis (HPP) was confirmed by genetic testing, which revealed a not previously described mutation in <jats:italic>CACNA1S<\/jats:italic> gene (c.3715C&gt;G\u2009p.Arg1239Gly). HPP is a rare neuromuscular disorder that causes episodic attacks of flaccid paralysis with concomitant hypokalaemia. Primary forms of the disease are skeletal muscle ion channelopathies. HPP occurs due to a problem in potassium distribution rather than a total body potassium deficiency. Therefore potassium replacement should be carefully performed because of the risk of rebound hyperkalaemia. Knowing this rare entity is important in order to avoid diagnostic delays and so that proper treatment can be initiated to reduce morbidity and mortality.<\/jats:p>","DOI":"10.1136\/bcr-2021-245952","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T10:48:33Z","timestamp":1642416513000},"page":"e245952","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel <i>CACNA1S<\/i> mutation in hypokalaemic periodic paralysis"],"prefix":"10.1136","volume":"15","author":[{"given":"Telma","family":"Lu\u00eds","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Centro Hospitalar do Baixo Vouga EPE, Aveiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria In\u00eas","family":"Linhares","sequence":"additional","affiliation":[{"name":"Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediatrico de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f3nia Regina","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centro Hospitalar do Baixo Vouga EPE, Aveiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9165-2159","authenticated-orcid":false,"given":"Filipa","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centro Hospitalar do Baixo Vouga EPE, Aveiro, Portugal"},{"name":"Child Development Unit\u2014Neuropediatrics, Department of Pediatrics, Centro Hospitalar do Baixo Vouga, Aveiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,1,17]]},"reference":[{"key":"2025082722565093000_15.1.e245952.1","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.nrl.2014.12.012","article-title":"Diagn\u00f3stico diferencial de par\u00e1lisis fl\u00e1cida en pediatr\u00eda","volume":"31","author":"Molina-Giraldo","year":"2016","journal-title":"Neurolog\u00eda"},{"key":"2025082722565093000_15.1.e245952.2","unstructured":"Gutmann L , Conwit R . 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