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An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis
DC Field | Value | Language |
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dc.contributor.author | 이영목 | - |
dc.date.accessioned | 2018-05-10T06:38:33Z | - |
dc.date.available | 2018-05-10T06:38:33Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 1226-6884 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/158356 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한소아신경학회 | - |
dc.relation.isPartOf | Journal of the Korean Child Neurology Society | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis | - |
dc.title.alternative | 저칼륨혈증 주기성 마비를 보이는 한국인 가족에서 발견된 CACNL1A3 유전자의 Arg528His 돌연변이 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Kyung-Ree Kim | - |
dc.contributor.googleauthor | Eun-Sook Suh | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.contributor.localId | A02955 | - |
dc.relation.journalcode | J01815 | - |
dc.subject.keyword | Hypokalemic periodic paralysis | - |
dc.subject.keyword | CACNL1A3 | - |
dc.subject.keyword | Arg528His mutation | - |
dc.subject.keyword | Korean | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 28 | - |
dc.citation.endPage | 32 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Child Neurology Society, Vol.20(1) : 28-32, 2012 | - |
dc.identifier.rimsid | 40720 | - |
dc.type.rims | ART | - |
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