Publications
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“Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.”, CJC Open, vol. 3, no. 3, pp. 256-266, 2021.
, “A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.”, Sci Rep, vol. 8, no. 1, p. 16681, 2018.
, “The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.”, Gene, vol. 536, no. 2, pp. 348-56, 2014.
, “A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.”, PLoS One, vol. 7, no. 5, p. e38331, 2012.
, “Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome.”, Can J Physiol Pharmacol, vol. 81, no. 2, pp. 129-34, 2003.
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