Timothy syndrome

Known as: LQT8, Long Qt Syndrome 8, Long QT syndrome with syndactyly 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2017
05101519772017

Papers overview

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2013
2013
Genetic mutations in ion channel genes that are associated with cardiac arrhythmias have been identified over the past several… (More)
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Highly Cited
2013
Highly Cited
2013
L-type voltage gated calcium channels have an important role in neuronal development by promoting dendritic growth and… (More)
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Highly Cited
2011
Highly Cited
2011
Individuals with congenital or acquired prolongation of the QT interval, or long QT syndrome (LQTS), are at risk of life… (More)
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2011
Highly Cited
2011
Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and… (More)
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2010
2010
RATIONALE L-Type (Cav1.2) Ca(2+) channels are critical regulators of muscle and neural function. Although Cav1.2 channel activity… (More)
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Highly Cited
2008
Highly Cited
2008
Calcium entry into excitable cells is an important physiological signal, supported by and highly sensitive to the activity of… (More)
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2007
2007
BACKGROUND Timothy syndrome is a multisystem disorder associated with QT interval prolongation and ventricular cardiac… (More)
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2006
2006
Calcium channels in the plasma membrane rarely remain open for much more than a millisecond at any one time, which avoids raising… (More)
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Highly Cited
2005
Highly Cited
2005
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features… (More)
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