Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 115, Issue 8, Pages 1990-1999Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI25505
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Funding
- NHLBI NIH HHS [R01 HL068880, HL68880] Funding Source: Medline
- NINDS NIH HHS [NS32387, R01 NS032387, R37 NS032387] Funding Source: Medline
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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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