Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability - Archive ouverte HAL
Article Dans Une Revue Journal of Neurochemistry Année : 2023

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

Evgeniia Rusina
  • Fonction : Auteur
Martina Simonti
  • Fonction : Auteur
Fabrice Duprat
  • Fonction : Auteur
Massimo Mantegazza

Résumé

Abstract The past two decades have witnessed a wide range of studies investigating genetic variants of voltage‐gated sodium (Na V ) 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 Na V 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 Na V 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 Na V 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

Dates et versions

hal-04768542 , version 1 (06-11-2024)

Identifiants

Citer

Evgeniia Rusina, Martina Simonti, Fabrice Duprat, Sandrine Cestèle, Massimo Mantegazza. Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability. Journal of Neurochemistry, 2023, ⟨10.1111/jnc.15947⟩. ⟨hal-04768542⟩
6 Consultations
0 Téléchargements

Altmetric

Partager

More