Understanding Genotypes and Phenotypes of the Mutations in Voltage- Gated Sodium Channel α Subunits in Epilepsy

CNS Neurol Disord Drug Targets. 2019;18(4):266-272. doi: 10.2174/1871527317666181026164825.

Abstract

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..

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Action Potentials / genetics
  • Animals
  • Epilepsy / genetics*
  • Genotype*
  • Humans
  • Mutation*
  • Phenotype*
  • Voltage-Gated Sodium Channels / genetics*

Substances

  • Voltage-Gated Sodium Channels