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

Makita, Naomasa; Sasaki, Koji; Groenewegen, W. Antoinette; Yokota, Takashi; Yokoshiki, Hisashi; Murakami, Tomoaki; Tsutsui, Hiroyuki

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

Makita, Naomasa; Sasaki, Koji; Groenewegen, W. Antoinette et al.

Heart Rhythm, 2005, 2(10), 1128-1134

Permalink : https://hdl.handle.net/2115/16956

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アクセス権	open access
URI	https://hdl.handle.net/2115/16956
タイトル	Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
著者	Makita, Naomasa ; Sasaki, Koji ; Groenewegen, W. Antoinette ; Yokota, Takashi ; Yokoshiki, Hisashi ; Murakami, Tomoaki ; Tsutsui, Hiroyuki
著者名 Makita, Naomasa
著者名 Sasaki, Koji
著者名 Groenewegen, W. Antoinette
著者名 Yokota, Takashi
e-Rad_Researcher 40360911 著者名 Yokoshiki, Hisashi
著者名 Murakami, Tomoaki
e-Rad_Researcher 70264017 著者名 Tsutsui, Hiroyuki
言語	英語
キーワード	Atrial standstill
	SCN5A
	Connexin 40
	Incomplete penetrance
	Single nucleotide polymorphism
	Sudden death
発行日	2005-10
出版者	Heart Rhythm Society Published by Elsevier Inc.
収録物名	Heart Rhythm
巻(号)	2(10)
ページ	1128-1134
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
PISSN	1547-5271
関連情報	PMID 16188595
関連情報	URI http://www.sciencedirect.com/science/journal/15475271
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.hrthm.2005.06.032