Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability

Author:

Rusina Evgeniia12,Simonti Martina12,Duprat Fabrice123,Cestèle Sandrine12,Mantegazza Massimo123ORCID

Affiliation:

1. University Cote d'Azur Valbonne‐Sophia Antipolis France

2. CNRS UMR 7275 Institute of Molecular and Cellular Pharmacology (IPMC) Valbonne‐Sophia Antipolis France

3. Inserm Valbonne‐Sophia Antipolis France

Abstract

AbstractThe past two decades have witnessed a wide range of studies investigating genetic variants of voltage‐gated sodium (NaV) channels, which are involved in a broad spectrum of diseases, including several types of epilepsy. We have reviewed here phenotypes and pathological mechanisms of genetic epilepsies caused by variants in NaV α and β subunits, as well as of some relevant interacting proteins (FGF12/FHF1, PRRT2, and Ankyrin‐G). Notably, variants of all these genes can induce either gain‐ or loss‐of‐function of NaV leading to either neuronal hyperexcitability or hypoexcitability. We present the results of functional studies obtained with different experimental models, highlighting that they should be interpreted considering the features of the experimental system used. These systems are models, but they have allowed us to better understand pathophysiological issues, ameliorate diagnostics, orientate genetic counseling, and select/develop therapies within a precision medicine framework. These studies have also allowed us to gain insights into the physiological roles of different NaV channels and of the cells that express them. Overall, our review shows the progress that has been made, but also the need for further studies on aspects that have not yet been clarified. Finally, we conclude by highlighting some significant themes of general interest that can be gleaned from the results of the work of the last two decades.image

Funder

Agence Nationale de la Recherche

Fondation Jérôme Lejeune

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Biochemistry

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