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

Author(s): Yijun Feng, Shuzhang Zhang, Zhiping Zhang, Jingkang Guo, Zhiyong Tan, Yudan Zhu*, Jie Tao*, Yong-Hua Ji*.

Journal Name: CNS & Neurological Disorders - Drug Targets
(Formerly Current Drug Targets - CNS & Neurological Disorders)

Volume 18 , Issue 4 , 2019

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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, α subunits, mutation, epilepsy, seizures, pathophysiological.

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VOLUME: 18
ISSUE: 4
Year: 2019
Page: [266 - 272]
Pages: 7
DOI: 10.2174/1871527317666181026164825
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