The WEISS Lab

Pathophysiology of Ion Channels

Genetic T-type calcium channelopathies


Journal article


N. Weiss, G. Zamponi
Journal of Medical Genetics, 2019

Semantic Scholar DOI PubMedCentral PubMed
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Cite

APA   Click to copy
Weiss, N., & Zamponi, G. (2019). Genetic T-type calcium channelopathies. Journal of Medical Genetics.


Chicago/Turabian   Click to copy
Weiss, N., and G. Zamponi. “Genetic T-Type Calcium Channelopathies.” Journal of Medical Genetics (2019).


MLA   Click to copy
Weiss, N., and G. Zamponi. “Genetic T-Type Calcium Channelopathies.” Journal of Medical Genetics, 2019.


BibTeX   Click to copy

@article{n2019a,
  title = {Genetic T-type calcium channelopathies},
  year = {2019},
  journal = {Journal of Medical Genetics},
  author = {Weiss, N. and Zamponi, G.}
}

Abstract

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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