A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2

被引：0

作者：

Ozawa, J. ^{[1
]}

Ohno, S. ^{[1
]}

Toyoda, F. ^{[2
]}

Fukuyama, M. ^{[1
]}

Harita, T. ^{[3
]}

Makiyama, T. ^{[3
]}

Saitoh, H. ^{[4
]}

Suzuki, H. ^{[5
]}

Saitoh, A. ^{[5
]}

Matsuura, H. ^{[2
]}

Horie, M. ^{[1
]}

机构：

[1] Shiga Univ Med Sci, Dept Cardiovasc & Resp Med, Shiga, Japan

[2] Shiga Univ Med Sci, Dept Physiol, Shiga, Japan

[3] Kyoto Univ, Grad Sch Med, Dept Cardiovasc Med, Kyoto, Japan

[4] Seirei Hamamatsu Gen Hosp, Dept Cardiovasc Med, Shizuoka, Japan

[5] Niigata Univ, Dept Pediat, Grad Sch Med & Dent Sci, Niigata, Japan

来源：

EUROPEAN HEART JOURNAL | 2016年 / 37卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P3466

引用

页码：681 / 681

页数：1

共 16 条

[11] Reduced Function of Cacna1c Encoded Cav1.2 During a Hormone Sensitive Period in Brain Development Leads to Sex-dependent Resilience to Despair in Adulthood
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[12] PRO-ARRHYTHMIC EFFECTS OF CALMODULIN KINASE II (CAMKII) IN TIMOTHY SYNDROME ARISING FROM A NEW CACNA1C MUTATION
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[13] Novel CACNA1C mutations identified in Japanese patients caused both Brugada syndrome and Idiopathic Ventricular Fibrillation without QT shortening
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[16] Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents
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