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Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N. Abe K, et al. Circ Arrhythm Electrophysiol. 2014 Jun;7(3):511-7. doi: 10.1161/CIRCEP.113.001340. Epub 2014 Apr 24. Circ Arrhythm Electrophysiol. 2014. PMID: 24762805 Free article.
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.
Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A, Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N. Ishikawa T, et al. Heart Rhythm. 2017 May;14(5):717-724. doi: 10.1016/j.hrthm.2017.01.020. Epub 2017 Jan 17. Heart Rhythm. 2017. PMID: 28104484
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. ...
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac …
Sudden cardiac death and inherited arrhythmia syndromes.
Sarkozy A, Brugada P. Sarkozy A, et al. J Cardiovasc Electrophysiol. 2005 Sep;16 Suppl 1:S8-20. doi: 10.1111/j.1540-8167.2005.50110.x. J Cardiovasc Electrophysiol. 2005. PMID: 16138889 Review.
Following a short clinical description of each syndrome, the recent findings in the genetics of long QT syndrome, short QT syndrome, isolated cardiac conduction defect, familial sick sinus syndrome, familial atrial fibrillation, cathecholaminergic poly …
Following a short clinical description of each syndrome, the recent findings in the genetics of long QT syndrome, short QT syndrome, isolate …
Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome.
Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N. Ishikawa T, et al. Circ Arrhythm Electrophysiol. 2015 Apr;8(2):400-8. doi: 10.1161/CIRCEP.114.002534. Epub 2015 Feb 25. Circ Arrhythm Electrophysiol. 2015. PMID: 25717017 Free article.
However, the existence of disease-causing MYH6 mutations for familial sick sinus syndrome and their underlying mechanisms remain unknown. ...This report reinforces the relevance of MYH6 for sinus node function and identifies a novel pathophysiology und …
However, the existence of disease-causing MYH6 mutations for familial sick sinus syndrome and their underlying m …
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura KI, Schott JJ, Makita N. Ishikawa T, et al. Circ Arrhythm Electrophysiol. 2020 Oct;13(10):e008712. doi: 10.1161/CIRCEP.120.008712. Epub 2020 Jul 29. Circ Arrhythm Electrophysiol. 2020. PMID: 32755394
METHODS: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51). ...
METHODS: Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a pr …