Abstract
AbstractBackgroundFamilial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium.CACNA1S,SCN4AorKCNJ2variants can cause hypoKPP.Case presentationWe investigated a Pakistani family affected with autosomal dominant familial hypoKPP through whole exome sequencing (WES). A heterozygousKCNJ2missense variant c.919A > G was found segregating with the disease phenotype in the family.ConclusionsTheKCNJ2missense 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.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Cited by
2 articles.
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