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 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.
George
Alfred L
AL
Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232-0275, USA. al.george@vanderbilt.edu
D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics*; D017136:Ion Transport / Q000235:genetics; D012964:Sodium / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism*
D015222:Sodium Channels; D012964:Sodium