PMID: 11328898May 1, 2001Paper

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
S H KimC C Lee

Abstract

Hypokalaemic periodic paralysis (hypoPP) is an autosomal dominant disorder involving the abnormal function of ion channels and it is characterized by paralysis attacks of varying severity, accompanied by a fall in blood potassium levels. Linkage analysis showed that the candidate locus responsible for hypoPP was localized to chromosome 1q31-32, and this locus encoded the muscle dihydropyridine-sensitive calcium channel alpha(1)-subunit (CACNA1S). So far, three different mutations in CACNA1S gene have been identified in patients with hypoPP: Arg528His, Arg1239His and Arg1239Gly in Caucasian patients. However, there are few reports about the mutations of CACNA1S gene in other races. In this study, four Korean families with five hypoPP patients were screened for mutations of CACNA1S gene with polymerase chain reaction-based restriction analysis and single-strand conformation polymorphism analysis. To determine the mode of inheritance, haplotype analysis was done with three microsatellite markers (D1S1726, CACNL1A3, and D1S1723). Arg528His mutation was detected in three families, and one family had no known mutations. Moreover, for the first time, we detected de novo Arg528His mutations in two out of three families with hypoPP. Hap...Continue Reading

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Citations

Feb 24, 2005·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Qiufen WangJunguo Yang
Aug 5, 2003·The American Journal of Emergency Medicine·Yuh-Feng LinShih-Hua Lin
Oct 15, 2009·BMC Medical Genetics·Danielle CarpenterMarie-Anne Shaw
Aug 8, 2015·Molecular Medicine Reports·Xiao-Ying WangHe-Bin Yao
Aug 16, 2011·The American Journal of the Medical Sciences·Chih-Chien SungShih-Hua Lin
Oct 14, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Tae-Hwan Kil, June-Bum Kim
Aug 15, 2014·The Journal of Membrane Biology·Dhiraj KumarPravir Kumar
Nov 4, 2006·Néphrologie & thérapeutique·Stéphane BurteyBertrand Dussol
Feb 18, 2005·Journal of Korean Medical Science·June Bum KimJae Kyun Hur
Dec 29, 2007·Journal of Korean Medical Science·June Bum KimByung Churl Lee
Dec 19, 2019·Pharmacogenetics and Genomics·Katrin SangkuhlTeri E Klein

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