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dc.contributor.authorMenezes, Luis Felipe Santos-
dc.contributor.authorSabiá Júnior, Elias Ferreira-
dc.contributor.authorTibery, Diogo Vieira-
dc.contributor.authorCarneiro, Lilian dos Anjos-
dc.contributor.authorSchwartz, Elisabeth Ferroni-
dc.date.accessioned2020-12-09T12:08:56Z-
dc.date.available2020-12-09T12:08:56Z-
dc.date.issued2020-08-18-
dc.identifier.citationMENEZES, Luis Felipe Santos et al. Epilepsy-related voltage-gated sodium channelopathies: a review. Frontiers in Pharmacology, v. 11, art. 1276, 18 ago. 2020. DOI: https://doi.org/10.3389/fphar.2020.01276. Disponível em: https://www.frontiersin.org/articles/10.3389/fphar.2020.01276/full. Acesso em: 09 dez. 2020.pt_BR
dc.identifier.urihttps://repositorio.unb.br/handle/10482/39705-
dc.language.isoInglêspt_BR
dc.publisherFrontierspt_BR
dc.rightsAcesso Abertopt_BR
dc.titleEpilepsy-related voltage-gated sodium channelopathies : a reviewpt_BR
dc.typeArtigopt_BR
dc.subject.keywordEpilepsiapt_BR
dc.subject.keywordCanais iônicospt_BR
dc.subject.keywordMutação (Biologia)pt_BR
dc.subject.keywordCanais de sódiopt_BR
dc.rights.licenseCopyright © 2020 Menezes, SabiáJunior, Tibery, Carneiro and Schwartz. 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.pt_BR
dc.identifier.doihttps://doi.org/10.3389/fphar.2020.01276pt_BR
dc.description.abstract1Epilepsy 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.pt_BR
dc.description.unidadeInstituto de Ciências Biológicas (IB)-
dc.description.unidadeDepartamento de Ciências Fisiológicas (IB CFS)-
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