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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

Epilepsy is a disease characterized by abnormal brain activity and a predisposition to generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and economic impacts for the patient. There are several known causes for epilepsy; one of them is the malfunction of ion c...

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Autores principales: Menezes, Luis Felipe Santos, Sabiá Júnior, Elias Ferreira, Tibery, Diogo Vieira, Carneiro, Lilian dos Anjos, Schwartz, Elisabeth Ferroni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461817/
https://www.ncbi.nlm.nih.gov/pubmed/33013363
http://dx.doi.org/10.3389/fphar.2020.01276
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author Menezes, Luis Felipe Santos
Sabiá Júnior, Elias Ferreira
Tibery, Diogo Vieira
Carneiro, Lilian dos Anjos
Schwartz, Elisabeth Ferroni
author_facet Menezes, Luis Felipe Santos
Sabiá Júnior, Elias Ferreira
Tibery, Diogo Vieira
Carneiro, Lilian dos Anjos
Schwartz, Elisabeth Ferroni
author_sort Menezes, Luis Felipe Santos
collection PubMed
description Epilepsy is a disease characterized by abnormal brain activity and a predisposition to generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and economic impacts for the patient. There are several known causes for epilepsy; one of them is the malfunction of ion channels, resulting from mutations. Voltage-gated sodium channels (NaV) play an essential role in the generation and propagation of action potential, and malfunction caused by mutations can induce irregular neuronal activity. That said, several genetic variations in NaV channels have been described and associated with epilepsy. These mutations can affect channel kinetics, modifying channel activation, inactivation, recovery from inactivation, and/or the current window. Among the NaV subtypes related to epilepsy, NaV1.1 is doubtless the most relevant, with more than 1500 mutations described. Truncation and missense mutations are the most observed alterations. In addition, several studies have already related mutated NaV channels with the electrophysiological functioning of the channel, aiming to correlate with the epilepsy phenotype. The present review provides an overview of studies on epilepsy-associated mutated human NaV1.1, NaV1.2, NaV1.3, NaV1.6, and NaV1.7.
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spelling pubmed-74618172020-10-01 Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review Menezes, Luis Felipe Santos Sabiá Júnior, Elias Ferreira Tibery, Diogo Vieira Carneiro, Lilian dos Anjos Schwartz, Elisabeth Ferroni Front Pharmacol Pharmacology Epilepsy is a disease characterized by abnormal brain activity and a predisposition to generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and economic impacts for the patient. There are several known causes for epilepsy; one of them is the malfunction of ion channels, resulting from mutations. Voltage-gated sodium channels (NaV) play an essential role in the generation and propagation of action potential, and malfunction caused by mutations can induce irregular neuronal activity. That said, several genetic variations in NaV channels have been described and associated with epilepsy. These mutations can affect channel kinetics, modifying channel activation, inactivation, recovery from inactivation, and/or the current window. Among the NaV subtypes related to epilepsy, NaV1.1 is doubtless the most relevant, with more than 1500 mutations described. Truncation and missense mutations are the most observed alterations. In addition, several studies have already related mutated NaV channels with the electrophysiological functioning of the channel, aiming to correlate with the epilepsy phenotype. The present review provides an overview of studies on epilepsy-associated mutated human NaV1.1, NaV1.2, NaV1.3, NaV1.6, and NaV1.7. Frontiers Media S.A. 2020-08-18 /pmc/articles/PMC7461817/ /pubmed/33013363 http://dx.doi.org/10.3389/fphar.2020.01276 Text en Copyright © 2020 Menezes, Sabiá Júnior, Tibery, Carneiro and Schwartz http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pharmacology
Menezes, Luis Felipe Santos
Sabiá Júnior, Elias Ferreira
Tibery, Diogo Vieira
Carneiro, Lilian dos Anjos
Schwartz, Elisabeth Ferroni
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title_full Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title_fullStr Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title_full_unstemmed Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title_short Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
title_sort epilepsy-related voltage-gated sodium channelopathies: a review
topic Pharmacology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461817/
https://www.ncbi.nlm.nih.gov/pubmed/33013363
http://dx.doi.org/10.3389/fphar.2020.01276
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