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.

Department of Physiology and Pharmacology Cumming School of Medicine University of Calgary Calgary Alberta Canada

Institute of Organic Chemistry and Biochemistry Czech Academy of Sciences Praha Czech Republic

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The T-type calcium channelosome

Secretory carrier-associated membrane protein 5 regulates cell-surface targeting of T-type calcium channels

Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss

Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia

Secretory carrier-associated membrane protein 2 (SCAMP2) regulates cell surface expression of T-type calcium channels

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Selective inhibition of neuronal Cav3.3 T-type calcium channels by TAT-based channel peptide

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity