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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...

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Detalles Bibliográficos
Autores principales: Villa, Chiara, Combi, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
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.
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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
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