NEW ELECTROPHYSIOLOGICAL INSIGHTS INTO AN SCN5A MUTATION CAUSING LQT
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NEW ELECTROPHYSIOLOGICAL INSIGHTS INTO AN SCN5A MUTATION CAUSING LQT

ELECTROPHYSIOLOGICAL EVALUATION OF THE D1790G MUTATION IN SCN5A GENE CAUSING CONGENITAL LONG QT SYNDROME

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The D1790G mutation in the C-terminus of SCN5A gene causes long-QT syndrome (LQT). Flecainide was shown to normalize the QT-interval of D1790G patients. In contrast, lidocaine, which shortens QTc in LQT3 patients who are carriers of KPQ mutation, is ineffective in treating D1790G patients. These observations imply that the mechanism of QT prolongation in D1790G carriers is different. Over the last years different expression models showed conflicting results in trying to explain the QT prolongation in carriers of this mutation. Furthermore, it is now well established that ion channels, includin...