{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T20:00:25Z","timestamp":1769457625176,"version":"3.49.0"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,18]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2019-0276_s_999\"><jats:title id=\"d1913515e34668\">Background<\/jats:title><jats:p>Familial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium.<jats:italic>CACNA1S<\/jats:italic>,<jats:italic>SCN4A<\/jats:italic>or<jats:italic>KCNJ2<\/jats:italic>variants can cause hypoKPP.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2019-0276_s_998\"><jats:title id=\"d1913515e34685\">Case presentation<\/jats:title><jats:p>We investigated a Pakistani family affected with autosomal dominant familial hypoKPP through whole exome sequencing (WES). A heterozygous<jats:italic>KCNJ2<\/jats:italic>missense variant c.919A\u2009&gt;\u2009G was found segregating with the disease phenotype in the family.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2019-0276_s_997\"><jats:title id=\"d1913515e34696\">Conclusions<\/jats:title><jats:p>The<jats:italic>KCNJ2<\/jats:italic>missense variant is the likely cause of the disorder in the affected family. The finding should help improve antenatal screening and genetic counselling of this family.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2019-0276","type":"journal-article","created":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T12:50:59Z","timestamp":1567601459000},"page":"1385-1389","source":"Crossref","is-referenced-by-count":4,"title":["Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani 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