{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T13:47:46Z","timestamp":1777643266539,"version":"3.51.4"},"reference-count":34,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,1]]},"abstract":"<jats:p>Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch origin and consists of 277 members in the last five generations, 55 of whom have HypoPP inherited in an autosomal dominant pattern. Forty-eight persons including 28 patients with a proven diagnosis of HypoPP were used for linkage analysis. Microsatellite markers were used to exclude 45 to 50% of the genome and linkage to chromosome 1q31-32 was found. No recombinants were found between HypoPP and D1S412 and a microsatellite contained within the DHP receptor alpha 1 subunit (CACLN1A3) gene. A previously reported G to A mutation causing an arginine to histidine substitution at residue 528 in the transmembrane segment IIS4 of the CACLN1A3 gene was shown in patients by restriction analysis of genomic PCR products.<\/jats:p>","DOI":"10.1136\/jmg.32.1.44","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"44-47","source":"Crossref","is-referenced-by-count":22,"title":["Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis."],"prefix":"10.1136","volume":"32","author":[{"given":"R H","family":"Boerman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R A","family":"Ophoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T P","family":"Links","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"van Eijk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L A","family":"Sandkuijl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Elbaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J E","family":"Vale-Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A R","family":"Wintzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"van Deutekom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D E","family":"Isles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,1,1]]},"reference":[{"issue":"62","key":"ref_1","first-page":"457","article-title":"Periodic paralysis","volume":"18","author":"Schipperheyn, J.J.; Wintzen, A.R.; Buruma, O.J.S.","year":"1992","unstructured":"Schipperheyn JJ, Wintzen AR, Buruma OJS. 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Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation? Hum Genet 1979; 48:113-6. Mutation in DHP receptor si subunit (CACLNlA3) gene in a Dutch family with hypokalaemic periodic paralysis"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0303-8467(92)90072-B","article-title":"Muscle fiber conduction velocity in the diagnosis of sporadic hypokalemic periodic paralysis","volume":"94","author":"Brouwer, O.F.; Zwarts, M.J.; Links, T.P.; Wintzen, A.R.","year":"1992","unstructured":"Brouwer OF, Zwarts MJ, Links TP, Wintzen AR. Muscle fiber conduction velocity in the diagnosis of sporadic hypokalemic periodic paralysis. Clin Neurol Neurosurg 1992;94:149-51.","journal-title":"Clin Neurol Neurosurg"},{"key":"ref_10","article-title":"Familial hypokalemic periodic paralysis","author":"ThP, Links","year":"1992","unstructured":"Links ThP. Familial hypokalemic periodic paralysis. 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