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
Cite

Cite

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

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

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


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.


Share