Back

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

27 August 2016 (00:00 - 00:00)
Organised by:
Congress Presentation Part of: Poster session 4 - Miscellaneous in arrhythmia Genetic aspects of arrhythmias ESC Premium Access ESC Congress 2016

About the speaker

Photo
Doctor Junichi Ozawa

Niigata University Graduate School of Medical and Dental Sciences, Niigata (Japan)

28 More presentations in this session

Presentation thumbnail
Genetic testing in a consecutive series of young athletes with suspected cathecolaminargic polymorphic ventricular tachycardia
Associate Professor N. Marziliano (Garbagnate Milanese, IT)
Presentation thumbnail
The burden of complex arrhythmic genotypes in a consecutive series of Sardinian population of patients with primary arrhythmic disorders
Associate Professor N. Marziliano (Garbagnate Milanese, IT)
Presentation thumbnail
Discrepancy of QTc duration and LQTS risk score for the diagnosis of type 3 LQTS
Doctor A. Hermida (Paris, FR)
Abstract
Presentation thumbnail
Complex inherited cardiac diseases inheritance in a family harbouring compound SCN5A and MYBPC3 mutations.
Doctor R. Mango (Rome, IT)
Abstract
Presentation thumbnail
Triple mutations in three major genes for long QT syndrome are very rare and cause complicated phenotypes with ventricular arrhythmia
Doctor S. Ohno (Suita, JP)
Abstract

Access the full session

Session thumbnail
Poster session 4 - Miscellaneous in arrhythmia

The Event

Event poster

ESC Congress 2016

27 August - 31 August 2016

ESC 365 is supported by

novartis Explore sponsored resources

ESC 365 is supported by

novartis Explore sponsored resources