저칼륨혈증 주기성 마비를 보이는 한국인가족에서 발견된 CACNL1A3 유전자의Arg528His 돌연변이An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis
- Other Titles
- An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis
- Authors
- 김경리; 서은숙; 이영목
- Issue Date
- 2012
- Publisher
- 대한소아신경학회
- Keywords
- Hypokalemic periodic paralysis; CACNL1A3; Arg528His mutation; Korean
- Citation
- 대한소아신경학회지, v.20, no.1, pp.28 - 32
- Journal Title
- 대한소아신경학회지
- Volume
- 20
- Number
- 1
- Start Page
- 28
- End Page
- 32
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/15913
- ISSN
- 1226-6884
- 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.
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Collections - College of Medicine > Department of Pediatrics > 1. Journal Articles
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