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An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis

Other Titles
 저칼륨혈증 주기성 마비를 보이는 한국인 가족에서 발견된 CACNL1A3 유전자의 Arg528His 돌연변이 
Authors
 Kyung-Ree Kim  ;  Eun-Sook Suh  ;  Young-Mock Lee 
Citation
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.20(1) : 28-32, 2012 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2012
Keywords
Hypokalemic periodic paralysis ; CACNL1A3 ; Arg528His mutation ; Korean
Abstract
Familial hypokalemic periodic paralysis (HOPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness with concomitant hypokalemia (<3.5 mEq/L). The onset of HOPP usually occurs within the first and second decade of life. Mutations in the skeletal muscle calcium (CACNL1A3 ) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Voltage-sensitive ion channels mediate action potentials in electrically excitable cells and play important roles in signal transduction in other cell types. Therefore, abnormalities in a channel's function lead to disarray of signal transduction and thus various neurological symptoms. Those are called channel diseases, which include familial HOPP. We report a 14-year-old boy with HOPP from a family in which two members of two generations are affected. Genetic examination identified a mutation causing a codon change from arginine to histidine at the amino acid portion #528 (R528H) in the calcium channel gene CACNL1A3.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/158356
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