Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels

Frontiers in Physiology
Mohamed-Yassine Amarouch, H Abriel

Abstract

Voltage-gated sodium channels (Nav) are widely expressed as macro-molecular complexes in both excitable and non-excitable tissues. In excitable tissues, the upstroke of the action potential is the result of the passage of a large and rapid influx of sodium ions through these channels. NaV dysfunction has been associated with an increasingly wide range of neurological, muscular and cardiac disorders. The purpose of this review is to summarize the recently identified sodium channel mutations that are linked to hyper-excitability phenotypes and associated with the alteration of the activation process of voltage gated sodium channels. Indeed, several clinical manifestations that demonstrate an alteration of tissue excitability were recently shown to be strongly associated with the presence of mutations that affect the activation process of the Nav. These emerging genotype-phenotype correlations have expanded the clinical spectrum of sodium channelopathies to include disorders which feature a hyper-excitability phenotype that may or may not be associated with a cardiomyopathy. The p.I141V mutation in SCN4A and SCN5A, as well as its homologous p.I136V mutation in SCN9A, are interesting examples of mutations that have been linked to i...Continue Reading

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Citations

Mar 12, 2016·Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc·Mohamed Y AmarouchHugues Abriel
Jul 19, 2018·The Journal of General Physiology·Yali WangYan Xu
Aug 3, 2018·Scanning·Mohamed Yassine AmarouchDriss Mazouzi
Aug 26, 2018·Scientific Reports·Michael ClerxPaul G A Volders
Nov 25, 2016·Computational and Mathematical Methods in Medicine·Maroua BoukhabzaMohamed-Yassine Amarouch
Feb 23, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Mohamed-Yassine AmarouchHugues Abriel
Aug 24, 2021·Frontiers in Physiology·Mohamed-Yassine AmarouchJean-Sébastien Rougier

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