Genetic T-type calcium channelopathies.

Affiliation

Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha, Czech Republic [Email] [Email]

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.

Keywords

aldosteronism,amyotrophic lateral sclerosis,autism spectrum disorders,calcium channels,cav3 channels,channelopathies,epilepsy,mutation,schizophrenia,t-type channels,

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