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Neuronal Cav3 channelopathies: recent progress and perspectives
T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are involved in a wide variety of physiological functions, especially in nervous systems. Their unique electrophysiological properties allow them to finely regulate neuronal excitability and to contribute to sensory proce...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351805/ https://www.ncbi.nlm.nih.gov/pubmed/32638069 http://dx.doi.org/10.1007/s00424-020-02429-7 |
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author | Lory, Philippe Nicole, Sophie Monteil, Arnaud |
author_facet | Lory, Philippe Nicole, Sophie Monteil, Arnaud |
author_sort | Lory, Philippe |
collection | PubMed |
description | T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are involved in a wide variety of physiological functions, especially in nervous systems. Their unique electrophysiological properties allow them to finely regulate neuronal excitability and to contribute to sensory processing, sleep, and hormone and neurotransmitter release. In the last two decades, genetic studies, including exploration of knock-out mouse models, have greatly contributed to elucidate the role of Cav3 channels in normal physiology, their regulation, and their implication in diseases. Mutations in genes encoding Cav3 channels (CACNA1G, CACNA1H, and CACNA1I) have been linked to a variety of neurodevelopmental, neurological, and psychiatric diseases designated here as neuronal Cav3 channelopathies. In this review, we describe and discuss the clinical findings and supporting in vitro and in vivo studies of the mutant channels, with a focus on de novo, gain-of-function missense mutations recently discovered in CACNA1G and CACNA1H. Overall, the studies of the Cav3 channelopathies help deciphering the pathogenic mechanisms of corresponding diseases and better delineate the properties and physiological roles Cav3 channels. |
format | Online Article Text |
id | pubmed-7351805 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-73518052020-07-16 Neuronal Cav3 channelopathies: recent progress and perspectives Lory, Philippe Nicole, Sophie Monteil, Arnaud Pflugers Arch Invited Review T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are involved in a wide variety of physiological functions, especially in nervous systems. Their unique electrophysiological properties allow them to finely regulate neuronal excitability and to contribute to sensory processing, sleep, and hormone and neurotransmitter release. In the last two decades, genetic studies, including exploration of knock-out mouse models, have greatly contributed to elucidate the role of Cav3 channels in normal physiology, their regulation, and their implication in diseases. Mutations in genes encoding Cav3 channels (CACNA1G, CACNA1H, and CACNA1I) have been linked to a variety of neurodevelopmental, neurological, and psychiatric diseases designated here as neuronal Cav3 channelopathies. In this review, we describe and discuss the clinical findings and supporting in vitro and in vivo studies of the mutant channels, with a focus on de novo, gain-of-function missense mutations recently discovered in CACNA1G and CACNA1H. Overall, the studies of the Cav3 channelopathies help deciphering the pathogenic mechanisms of corresponding diseases and better delineate the properties and physiological roles Cav3 channels. Springer Berlin Heidelberg 2020-07-07 2020 /pmc/articles/PMC7351805/ /pubmed/32638069 http://dx.doi.org/10.1007/s00424-020-02429-7 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Invited Review Lory, Philippe Nicole, Sophie Monteil, Arnaud Neuronal Cav3 channelopathies: recent progress and perspectives |
title | Neuronal Cav3 channelopathies: recent progress and perspectives |
title_full | Neuronal Cav3 channelopathies: recent progress and perspectives |
title_fullStr | Neuronal Cav3 channelopathies: recent progress and perspectives |
title_full_unstemmed | Neuronal Cav3 channelopathies: recent progress and perspectives |
title_short | Neuronal Cav3 channelopathies: recent progress and perspectives |
title_sort | neuronal cav3 channelopathies: recent progress and perspectives |
topic | Invited Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351805/ https://www.ncbi.nlm.nih.gov/pubmed/32638069 http://dx.doi.org/10.1007/s00424-020-02429-7 |
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