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Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms

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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)

Submitter: 筒井 裕之

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