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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-08-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fphar.2020.01276/full |
| _version_ | 1818317267621904384 |
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| author | Luis Felipe Santos Menezes Elias Ferreira Sabiá Júnior Diogo Vieira Tibery Lilian dos Anjos Carneiro Lilian dos Anjos Carneiro Elisabeth Ferroni Schwartz |
| author_facet | Luis Felipe Santos Menezes Elias Ferreira Sabiá Júnior Diogo Vieira Tibery Lilian dos Anjos Carneiro Lilian dos Anjos Carneiro Elisabeth Ferroni Schwartz |
| author_sort | Luis Felipe Santos Menezes |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T09:34:37Z |
| format | Article |
| id | doaj.art-1d39e9fe9f8c4a77a4dc2b51cd89e9d5 |
| institution | Directory Open Access Journal |
| issn | 1663-9812 |
| language | English |
| last_indexed | 2024-12-13T09:34:37Z |
| publishDate | 2020-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj.art-1d39e9fe9f8c4a77a4dc2b51cd89e9d52022-12-21T23:52:24ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122020-08-011110.3389/fphar.2020.01276554390Epilepsy-Related Voltage-Gated Sodium Channelopathies: A ReviewLuis Felipe Santos Menezes0Elias Ferreira Sabiá Júnior1Diogo Vieira Tibery2Lilian dos Anjos Carneiro3Lilian dos Anjos Carneiro4Elisabeth Ferroni Schwartz5Laboratório de Neurofarmacologia, Departamento de Ciências Fisiológicas, Universidade de Brasília, Brasília, BrazilLaboratório de Neurofarmacologia, Departamento de Ciências Fisiológicas, Universidade de Brasília, Brasília, BrazilLaboratório de Neurofarmacologia, Departamento de Ciências Fisiológicas, Universidade de Brasília, Brasília, BrazilFaculdade de Medicina, Centro Universitário Euro Americano, Brasília, BrazilFaculdade de Medicina, Centro Universitário do Planalto Central, Brasília, BrazilLaboratório de Neurofarmacologia, Departamento de Ciências Fisiológicas, Universidade de Brasília, Brasília, BrazilEpilepsy 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.https://www.frontiersin.org/article/10.3389/fphar.2020.01276/fullchannelopathiesepilepsyion channelmutationsodium channel |
| spellingShingle | Luis Felipe Santos Menezes Elias Ferreira Sabiá Júnior Diogo Vieira Tibery Lilian dos Anjos Carneiro Lilian dos Anjos Carneiro Elisabeth Ferroni Schwartz Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review Frontiers in Pharmacology channelopathies epilepsy ion channel mutation sodium channel |
| 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 | channelopathies epilepsy ion channel mutation sodium channel |
| url | https://www.frontiersin.org/article/10.3389/fphar.2020.01276/full |
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