Voltage-gated sodium channels mutations and their role in epilepsy

Andrzej Patyra; Grzegorz Witkowski

doi:10.56782/pps.1

Published : 2022-06-09

Vol. 20 No. 1 (2022)

Voltage-gated sodium channels mutations and their role in epilepsy

Andrzej Patyra

Grzegorz Witkowski

DOI: https://doi.org/10.56782/pps.1

Abstract

Voltage-gated ion channels play a pivotal role in cell signaling. They are responsible for generating action potential and repolarization. For this reason, dysfunctions of these channels are more and more often associated with the occurrence of both congenital and acquired neurological diseases, such as epilepsies, migraines, ataxias, or neuromyotonia. Clinical symptoms of neuronal ion channel dysfunction differ significantly, reflecting the role and distribution of a given channel in the central and peripheral nervous systems. This paper re-views voltage-gated sodium channel structure, physiology, mutations, and their role in epilepsy.

Keywords:

Voltage-gated sodium channel, Epilepsy, Dravet syndrome, GEFS , SCN1A

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Patyra, A., & Witkowski, G. (2022). Voltage-gated sodium channels mutations and their role in epilepsy. Prospects in Pharmaceutical Sciences, 20(1), 11–18. https://doi.org/10.56782/pps.1

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Patyra, A. Badanie elektrofizjologiczne nerwów obwodowych u dzieci z zespołem padaczkowym Dravet. Medical University of Warsaw, Warsaw, Poland, 2018.

Andrzej Patyra

andrzej.patyra@wum.edu.pl
https://orcid.org/0000-0003-4981-6660

Affiliation:

Department of Pharmacognosy and Molecular Basis of Phytotherapy, Medical University of Warsaw, Warsaw, Poland; Doctoral School, Medical University of Warsaw, Warsaw, Poland; Institut des Biomolécules Max Mousseron, Université de Montpellier, CNRS, ENSCM, Montpellier, France Poland

Grzegorz Witkowski

Affiliation:

I-st Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland Poland