Article
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
Circulation. Arrhythmia and electrophysiology - 1 Dec 2008
Wang Dao W, Crotti Lia, Shimizu Wataru, Pedrazzini Matteo, Cantu Francesco, De Filippo Paolo, Kishiki Kanako, Miyazaki Aya, Ikeda Tomoaki, Schwartz Peter J, George Alfred L
Abstract excerpt
BACKGROUND: Inherited cardiac arrhythmia susceptibility contributes to sudden death during infancy and may contribute to perinatal and neonatal mortality, but the molecular basis of this risk and the relationship to genetic disorders presenting later in life is unclear. We studied the functional and pharmacological properties of a novel de novo cardiac sodium channel gene (SCN5A) mutation associated with an...
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