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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview
Potassium (K(+)) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K(+) channel diversity depends on the presence in the human genome of a large number of genes...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811893/ https://www.ncbi.nlm.nih.gov/pubmed/27064559 http://dx.doi.org/10.3389/fncel.2016.00081 |
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author | Villa, Chiara Combi, Romina |
author_facet | Villa, Chiara Combi, Romina |
author_sort | Villa, Chiara |
collection | PubMed |
description | Potassium (K(+)) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K(+) channel diversity depends on the presence in the human genome of a large number of genes either encoding pore-forming or accessory subunits. More than 80 genes encoding the K(+) channels were cloned and they represent the largest group of ion channels regulating the electrical activity of cells in different tissues, including the brain. It is therefore not surprising that mutations in these genes lead to K(+) channels dysfunctions linked to inherited epilepsy in humans and non-human model animals. This article reviews genetic and molecular progresses in exploring the pathogenesis of different human epilepsies, with special emphasis on the role of K(+) channels in monogenic forms. |
format | Online Article Text |
id | pubmed-4811893 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-48118932016-04-08 Potassium Channels and Human Epileptic Phenotypes: An Updated Overview Villa, Chiara Combi, Romina Front Cell Neurosci Neuroscience Potassium (K(+)) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K(+) channel diversity depends on the presence in the human genome of a large number of genes either encoding pore-forming or accessory subunits. More than 80 genes encoding the K(+) channels were cloned and they represent the largest group of ion channels regulating the electrical activity of cells in different tissues, including the brain. It is therefore not surprising that mutations in these genes lead to K(+) channels dysfunctions linked to inherited epilepsy in humans and non-human model animals. This article reviews genetic and molecular progresses in exploring the pathogenesis of different human epilepsies, with special emphasis on the role of K(+) channels in monogenic forms. Frontiers Media S.A. 2016-03-30 /pmc/articles/PMC4811893/ /pubmed/27064559 http://dx.doi.org/10.3389/fncel.2016.00081 Text en Copyright © 2016 Villa and Combi. 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) or licensor 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 | Neuroscience Villa, Chiara Combi, Romina Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title | Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title_full | Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title_fullStr | Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title_full_unstemmed | Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title_short | Potassium Channels and Human Epileptic Phenotypes: An Updated Overview |
title_sort | potassium channels and human epileptic phenotypes: an updated overview |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811893/ https://www.ncbi.nlm.nih.gov/pubmed/27064559 http://dx.doi.org/10.3389/fncel.2016.00081 |
work_keys_str_mv | AT villachiara potassiumchannelsandhumanepilepticphenotypesanupdatedoverview AT combiromina potassiumchannelsandhumanepilepticphenotypesanupdatedoverview |