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)
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