Background & Objective: Voltage-gated sodium channels (VGSCs) are responsible for the generation and propagation of action potentials in most excitable cells. In general, a VGSC consists of one pore-forming alpha subunit and two auxiliary beta subunits. Genetic alterations in VGSCs genes, including both alpha and beta subunits, are considered to be associated with epileptogenesis as well as seizures. This review aims to summarize the mutations in VGSC alpha subunits in epilepsy, particularly the pathophysiological and pharmacological properties of relevant VGSC mutants.
Conclusion: The review of epilepsy-associated VGSC alpha subunits mutants may not only contribute to the understanding of disease mechanism and genetic modifiers, but also provide potential theoretical targets for the precision and individualized medicine for epilepsy.
[1]Shanghai Univ, Lab Neuropharmacol & Neurotoxicol, Shanghai 200444, Peoples R China.
[2]Shanghai Univ Tradit Chinese Med, Putuo Hosp, Dept Neurol & Neurosurg, Cent Lab, Shanghai, Peoples R China.
[3]Indiana Univ Sch Med, Dept Pharmacol & Toxicol, Indianapolis, IN 46202 USA.
[4]Indiana Univ Sch Med, Stark Neurosci Res Inst, Indianapolis, IN 46202 USA.
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