{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:54:10Z","timestamp":1784310850152,"version":"3.55.0"},"reference-count":28,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2017,8,9]]},"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (<jats:italic>CACNA1S<\/jats:italic>:c.1583G&gt;A\u2009p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a <jats:italic>CACNA1S<\/jats:italic> gene mutation.<\/jats:p>","DOI":"10.1136\/practneurol-2017-001677","type":"journal-article","created":{"date-parts":[[2017,10,2]],"date-time":"2017-10-02T20:55:23Z","timestamp":1506977723000},"page":"60-65","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Diverse phenotype of hypokalaemic periodic paralysis within a family"],"prefix":"10.1136","volume":"18","author":[{"given":"Albi Jose","family":"Chalissery","sequence":"first","affiliation":[{"name":"Department of Neurology, St James\u2019s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tudor","family":"Munteanu","sequence":"additional","affiliation":[{"name":"Department of Neurology, St James\u2019s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Langan","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology, St James Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Brett","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Beaumont Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Redmond","sequence":"additional","affiliation":[{"name":"Department of Neurology, St James\u2019s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,9,28]]},"reference":[{"key":"2025090410255165000_18.1.60.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0339-0"},{"key":"2025090410255165000_18.1.60.2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000143383.91137.00"},{"key":"2025090410255165000_18.1.60.3","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1016\/j.jocn.2015.06.006","article-title":"Episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis","volume":"22","author":"Basali","year":"2015","journal-title":"J Clin Neurosci"},{"key":"2025090410255165000_18.1.60.4","doi-asserted-by":"publisher","DOI":"10.1177\/1941874413495702"},{"key":"2025090410255165000_18.1.60.5","first-page":"PD03","article-title":"A case of periodic hypokalemic paralysis in a patient with celiac disease","volume":"8","author":"Ranjan","year":"2014","journal-title":"J Clin Diagn Res"},{"key":"2025090410255165000_18.1.60.6","first-page":"e342","article-title":"Thyrotoxic periodic paralysis: an underdiagnosed and under-recognized condition","volume":"7","author":"Tella","year":"2015","journal-title":"Cureus"},{"key":"2025090410255165000_18.1.60.7","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/BF00211025","article-title":"Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)","volume":"94","author":"Plassart","year":"1994","journal-title":"Hum Genet"},{"key":"2025090410255165000_18.1.60.8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420306"},{"key":"2025090410255165000_18.1.60.9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0811277106"},{"key":"2025090410255165000_18.1.60.10","doi-asserted-by":"crossref","unstructured":"Sansone V , Meola G , Links TP , et al . 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