Genetic T-type calcium channelopathies

T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disord...

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Detalles Bibliográficos
Autores principales: Weiss, Norbert, Zamponi, Gerald W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929700/
https://www.ncbi.nlm.nih.gov/pubmed/31217264
http://dx.doi.org/10.1136/jmedgenet-2019-106163
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author Weiss, Norbert
Zamponi, Gerald W
author_facet Weiss, Norbert
Zamponi, Gerald W
author_sort Weiss, Norbert
collection PubMed
description T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disorders, schizophrenia, motor neuron disorders and aldosteronism have been traced to variations in genes encoding T-type channels. In this short review, we present the genetics of T-type channels with an emphasis on structure-function relationships and associated channelopathies.
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spelling pubmed-69297002020-01-06 Genetic T-type calcium channelopathies Weiss, Norbert Zamponi, Gerald W J Med Genet Neurogenetics T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disorders, schizophrenia, motor neuron disorders and aldosteronism have been traced to variations in genes encoding T-type channels. In this short review, we present the genetics of T-type channels with an emphasis on structure-function relationships and associated channelopathies. BMJ Publishing Group 2020-01 2019-06-19 /pmc/articles/PMC6929700/ /pubmed/31217264 http://dx.doi.org/10.1136/jmedgenet-2019-106163 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Neurogenetics
Weiss, Norbert
Zamponi, Gerald W
Genetic T-type calcium channelopathies
title Genetic T-type calcium channelopathies
title_full Genetic T-type calcium channelopathies
title_fullStr Genetic T-type calcium channelopathies
title_full_unstemmed Genetic T-type calcium channelopathies
title_short Genetic T-type calcium channelopathies
title_sort genetic t-type calcium channelopathies
topic Neurogenetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929700/
https://www.ncbi.nlm.nih.gov/pubmed/31217264
http://dx.doi.org/10.1136/jmedgenet-2019-106163
work_keys_str_mv AT weissnorbert geneticttypecalciumchannelopathies
AT zamponigeraldw geneticttypecalciumchannelopathies

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