Inherited disorders of voltage-gated sodium channels

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Inherited disorders of voltage-gated sodium channels.

A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm, and nervous system function have been traced to mutations in genes encoding voltage-gated sodium channels. Clinical severity among these conditions ranges from mild or even latent disease to life-threatening or incapacitating conditions. The sodium channelopathies were among the first recognized ion chan...

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The Hodgkin-Huxley formulation, at its 60th anniversary, remains a bastion of neuroscience. Sodium channels Nav1.1-Nav1.3 and Nav1.6-Nav1.9 support electrogenesis in neurons and are often considered "neuronal," whereas Nav1.4 and Nav1.5 drive electrogenesis in skeletal and cardiac muscle. These channels are, however, expressed in cell types that are not considered electrically excitable. Here, ...

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been given different names, so that there are multiple Sodium Channels synonyms for many of sodium channel isoforms. To eliminate confusion resulting from the multiplicity of names, we propose a standardized nomenclature for Voltage-gated sodium channels are critical elements of voltage-gated sodium channels (Table 1). This nomen-action potential initiation and propagation in excitable clature ...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 2005

ISSN: 0021-9738

DOI: 10.1172/jci25505