Cargando…
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions
Genetic epilepsy occurs as a result of mutations in either a single gene or an interplay of different genes. These mutations have been detected in ion channel and non-ion channel genes. A noteworthy class of ion channel genes are the voltage gated sodium channels (VGSCs) that play key roles in the d...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024648/ https://www.ncbi.nlm.nih.gov/pubmed/33841294 http://dx.doi.org/10.3389/fneur.2021.600050 |
_version_ | 1783675352908824576 |
---|---|
author | Ademuwagun, Ibitayo Abigail Rotimi, Solomon Oladapo Syrbe, Steffen Ajamma, Yvonne Ukamaka Adebiyi, Ezekiel |
author_facet | Ademuwagun, Ibitayo Abigail Rotimi, Solomon Oladapo Syrbe, Steffen Ajamma, Yvonne Ukamaka Adebiyi, Ezekiel |
author_sort | Ademuwagun, Ibitayo Abigail |
collection | PubMed |
description | Genetic epilepsy occurs as a result of mutations in either a single gene or an interplay of different genes. These mutations have been detected in ion channel and non-ion channel genes. A noteworthy class of ion channel genes are the voltage gated sodium channels (VGSCs) that play key roles in the depolarization phase of action potentials in neurons. Of huge significance are SCN1A, SCN1B, SCN2A, SCN3A, and SCN8A genes that are highly expressed in the brain. Genomic studies have revealed inherited and de novo mutations in sodium channels that are linked to different forms of epilepsies. Due to the high frequency of sodium channel mutations in epilepsy, this review discusses the pathogenic mutations in the sodium channel genes that lead to epilepsy. In addition, it explores the functional studies on some known mutations and the clinical significance of VGSC mutations in the medical management of epilepsy. The understanding of these channel mutations may serve as a strong guide in making effective treatment decisions in patient management. |
format | Online Article Text |
id | pubmed-8024648 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-80246482021-04-08 Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions Ademuwagun, Ibitayo Abigail Rotimi, Solomon Oladapo Syrbe, Steffen Ajamma, Yvonne Ukamaka Adebiyi, Ezekiel Front Neurol Neurology Genetic epilepsy occurs as a result of mutations in either a single gene or an interplay of different genes. These mutations have been detected in ion channel and non-ion channel genes. A noteworthy class of ion channel genes are the voltage gated sodium channels (VGSCs) that play key roles in the depolarization phase of action potentials in neurons. Of huge significance are SCN1A, SCN1B, SCN2A, SCN3A, and SCN8A genes that are highly expressed in the brain. Genomic studies have revealed inherited and de novo mutations in sodium channels that are linked to different forms of epilepsies. Due to the high frequency of sodium channel mutations in epilepsy, this review discusses the pathogenic mutations in the sodium channel genes that lead to epilepsy. In addition, it explores the functional studies on some known mutations and the clinical significance of VGSC mutations in the medical management of epilepsy. The understanding of these channel mutations may serve as a strong guide in making effective treatment decisions in patient management. Frontiers Media S.A. 2021-03-24 /pmc/articles/PMC8024648/ /pubmed/33841294 http://dx.doi.org/10.3389/fneur.2021.600050 Text en Copyright © 2021 Ademuwagun, Rotimi, Syrbe, Ajamma and Adebiyi. 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 | Neurology Ademuwagun, Ibitayo Abigail Rotimi, Solomon Oladapo Syrbe, Steffen Ajamma, Yvonne Ukamaka Adebiyi, Ezekiel Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title | Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title_full | Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title_fullStr | Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title_full_unstemmed | Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title_short | Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions |
title_sort | voltage gated sodium channel genes in epilepsy: mutations, functional studies, and treatment dimensions |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024648/ https://www.ncbi.nlm.nih.gov/pubmed/33841294 http://dx.doi.org/10.3389/fneur.2021.600050 |
work_keys_str_mv | AT ademuwagunibitayoabigail voltagegatedsodiumchannelgenesinepilepsymutationsfunctionalstudiesandtreatmentdimensions AT rotimisolomonoladapo voltagegatedsodiumchannelgenesinepilepsymutationsfunctionalstudiesandtreatmentdimensions AT syrbesteffen voltagegatedsodiumchannelgenesinepilepsymutationsfunctionalstudiesandtreatmentdimensions AT ajammayvonneukamaka voltagegatedsodiumchannelgenesinepilepsymutationsfunctionalstudiesandtreatmentdimensions AT adebiyiezekiel voltagegatedsodiumchannelgenesinepilepsymutationsfunctionalstudiesandtreatmentdimensions |