Séverine Petitprez

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BACKGROUND Mutations in SCN4A may lead to myotonia. METHODS Presentation of a large family with myotonia, including molecular studies and patch clamp experiments using human embryonic kidney 293 cells expressing wild-type and mutated channels. RESULTS In a large family with historic data on seven generations and a clear phenotype, including myotonia at(More)
AIMS Brain-type alpha-subunit isoforms of the Na(+) channel are present in various cardiac tissue types and may control pacemaker activity and excitation-contraction coupling. Heart failure (HF) alters pacemaker activity and excitation-contraction coupling. Here, we studied whether HF alters brain-type Na(+) channel properties. METHODS AND RESULTS HF was(More)
AIMS Brugada syndrome (BrS) is characterized by arrhythmias leading to sudden cardiac death. BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5. Here, we aimed to characterize the biophysical properties and consequences of a novel BrS SCN5A mutation. METHODS AND RESULTS SCN5A was screened for(More)
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