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SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes.
http://hdl.handle.net/10422/00012719
http://hdl.handle.net/10422/00012719842711ee-179c-4dec-80ba-db3c50403cc8
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2020-06-17 | |||||
タイトル | ||||||
タイトル | SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | SCN5A | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | ScTdP | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | genetics | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | inherited arrhythmia | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | ion channel | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
著者 |
SONODA, Keiko
× SONODA, Keiko× OHNO, Seiko× SHIMIZU, Yukiko× KAITANI, Kazuaki× MAKIYAMA, Takeru× NAKAGAWA, Yoshihisa× HORIE, Minoru |
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著者別名 |
園田, 桂子
× 園田, 桂子× 大野, 聖子× 中川, 義久× 堀江, 稔 |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background: Short-coupled variant of torsades de pointes (scTdP) is a disease characterized by TdP without QT prolongation, which is initiated by extremely short-coupled ventricular extra-systoles. Its genetic background remains rarely unveiled. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Objective: We aimed to identify genetic variations in patients with scTdP and to analyze the functional change of the mutant Na+ channel identified in a scTdP patient. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Methods and results: We performed genetic analysis for inherited arrhythmia-related 45 genes using next-generation sequencer (MiSeq, Illumina) among seven consecutive scTdP patients. We identified an SCN5A mutation R800H in a 38-year-old male who suffered ventricular fibrillation during dinner and was resuscitated. Two months later, he lost his consciousness at work. His Holter electrocardiogram showed scTdP. He had no family history of sudden cardiac death or heart disease. Functional analysis of the SCN5A-R800H channels showed a significantly shortened recovery time from inactivation. Peak sodium current densities in SCN5A-R800H were larger than those in wild type but the difference was not statistically significant. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Conclusions: We identified an SCN5A mutation in a scTdP patient and confirmed that the mutant channel caused the shortness of recovery time from inactivation. SCN5A might be a candidate gene for scTdP. |
|||||
書誌情報 |
en : Pacing and clinical electrophysiology : PACE 巻 43, 号 5, p. 456-461, 発行日 2020-05 |
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出版者 | ||||||
出版者 | WIley | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1540-8159 | |||||
PMID | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 32323320 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1111/pace.13924 | |||||
関連名称 | 10.1111/pace.13924 | |||||
権利 | ||||||
権利情報 | © 2020 Wiley Periodicals, Inc. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal Article |