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 α subunit and two auxiliary β subunits. Genetic alterations in VGSCs genes, including both α and β subunits, are considered to be associated with epileptogenesis as well as seizures. This review aims to summarize the mutations in VGSC α subunits in epilepsy, particularly the pathophysiological and pharmacological properties of relevant VGSC mutants.
Conclusion: The review of epilepsy-associated VGSC α 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.
Keywords: Voltage-gated sodium channels; epilepsy; mutation; pathophysiological; seizures; α subunits..
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