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

[ Vol. 18 , Issue. 4 ]

Author(s):

Yijun Feng, Shuzhang Zhang, Zhiping Zhang, Jingkang Guo, Zhiyong Tan, Yudan Zhu*, Jie Tao* and Yong-Hua Ji*   Pages 266 - 272 ( 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, α subunits, mutation, epilepsy, seizures, pathophysiological.

Affiliation:

Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, Shanghai 200444, Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, Shanghai 200444, Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, Shanghai 200444, Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, Shanghai 200444, Department of Pharmacology and Toxicology and Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN, 46202, Central Laboratory, Department of Neurology and Neurosurgery, Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, Central Laboratory, Department of Neurology and Neurosurgery, Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, Shanghai 200444

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