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Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
Peer-reviewed Journal Articles, etc >
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
| Title: | Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms |
| Authors: | Makita, Naomasa Browse this author | | Sasaki, Koji Browse this author | | Groenewegen, W. Antoinette Browse this author | | Yokota, Takashi Browse this author | | Yokoshiki, Hisashi Browse this author →KAKEN DB | | Murakami, Tomoaki Browse this author | | Tsutsui, Hiroyuki Browse this author →KAKEN DB |
| Keywords: | Atrial standstill | | SCN5A | | Connexin 40 | | Incomplete penetrance | | Single nucleotide polymorphism | | Sudden death |
| Issue Date: | Oct-2005 |
| Publisher: | Heart Rhythm Society Published by Elsevier Inc. |
| Journal Title: | Heart Rhythm |
| Volume: | 2 |
| Issue: | 10 |
| Start Page: | 1128 |
| End Page: | 1134 |
| Publisher DOI: | 10.1016/j.hrthm.2005.06.032 |
| PMID: | 16188595 |
| Abstract: | The novel SCN5A mutation L212P was identified in the proband (age 11 years) and his father. The father was in normal sinus rhythm. The proband had no P waves on surface ECG, and his right atrium could not be captured by pacing. The recombinant L212P Na channel showed a large hyperpolarizing shift in both the voltage dependence of activation (WT: −48.1 ± 0.9 mV; L212P: −63.5 ± 1.5 mV; P < .001) and inactivation (WT: −86.6 ± 0.9 mV; L212P: −95.6 ± 0.8 mV; P < .001) and delayed recovery from inactivation. Further screenings for genetic variations that might mitigate L212P dysfunction revealed that the proband, but not his father, carries Cx40 polymorphisms inherited from his asymptomatic mother. |
| Relation: | http://www.sciencedirect.com/science/journal/15475271 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/16956 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 筒井 裕之
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