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Mutations in genes encoding voltage-gated sodium channels are responsible for a variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm, and nervous system function.
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This review highlights the role of voltage-gated sodium channel mutations in the pathophysiology of cardiac arrhythmias, epilepsy, and skeletal muscle disorders.
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 channel diseases and continue to attract widespread clinical and scientific interest. An expanding knowledge base has substantially advanced our understanding of structure-function and genotype-phenotype relationships for voltage-gated sodium channels and provided new insights into the pathophysiological basis for common diseases such as cardiac arrhythmias and epilepsy.
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Alfred L. George (2005) conducted a review in Inherited disorders of voltage-gated sodium channels. Voltage-gated sodium channel mutations was evaluated. Mutations in genes encoding voltage-gated sodium channels are responsible for a variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm, and nervous system function.
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