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

Author(s):

Shuzhang Zhang, Yudan Zhu, Zhiping Zhang, Jie Tao* and Yong-Hua Ji   Pages 1 - 7 ( 7 )

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, mutation, epilepsy.

Affiliation:

Shanghai University - Laboratory of Neuropharmacology and Neurotoxicology, School of Life Science Shanghai, Shanghai University of Traditional Chinese Medicine - Central Laboratory, Putuo Hospital Shanghai, Shanghai University - Laboratory of Neuropharmacology and Neurotoxicology, School of Life Science Shanghai, Shanghai University of Traditional Chinese Medicine - Central Laboratory, Putuo Hospital Shanghai, Shanghai University - Laboratory of Neuropharmacology and Neurotoxicology, School of Life Science Shanghai



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