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Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Kim, Gi Beom | - |
dc.contributor.author | Bae, Eun Jung | - |
dc.contributor.author | Noh, Chung Il | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Ko, Tae Sung | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Hwang, Hee | - |
dc.date.accessioned | 2012-06-12T02:25:23Z | - |
dc.date.available | 2012-06-12T02:25:23Z | - |
dc.date.issued | 2010-04 | - |
dc.identifier.citation | JOURNAL OF CHILD NEUROLOGY; Vol.25 4; 490-493 | ko_KR |
dc.identifier.issn | 0883-0738 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76980 | - |
dc.description.abstract | Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distinct clinical features of periodic paralysis, cardiac arrhythmia, and facial and skeletal dysmorphisms and exhibits autosomal dominant inheritance. Mutations in the KCNP gene, which encodes the human inward rectifier potassium channel Kir2.1, have been identified in the majority of cases. Despite well-established clinical and molecular characteristics, treatment is still case oriented, and timely diagnosis could be delayed because of the low incidence and phenotypic heterogeneity of this disease. This article describes the clinical and molecular features of 3 cases of Andersen-Tawil syndrome in 2 families. One of the mutations (GI44D) was located in the pore selectivity filter residue (which is mutated recurrently) and was considered novel. Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | SAGE PUBLICATIONS INC | ko_KR |
dc.subject | Andersen syndrome | ko_KR |
dc.subject | mutation | ko_KR |
dc.subject | periodic paralysis | ko_KR |
dc.subject | KCNJ2 gene | ko_KR |
dc.subject | cardiac arrhythmia | ko_KR |
dc.title | Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 임병찬 | - |
dc.contributor.AlternativeAuthor | 김기범 | - |
dc.contributor.AlternativeAuthor | 배은정 | - |
dc.contributor.AlternativeAuthor | 노청일 | - |
dc.contributor.AlternativeAuthor | 황희 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.contributor.AlternativeAuthor | 고태성 | - |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.identifier.doi | 10.1177/0883073809357937 | - |
dc.citation.journaltitle | JOURNAL OF CHILD NEUROLOGY | - |
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dc.description.tc | 1 | - |
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