Cav2.1 channelopathies and genetic approaches for investigatings Cav2.1 channel function and dysfunction

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Citations (Scopus)


Voltage-gated Ca2+ (Cav) channels allow the entry of Ca2+ into a cell when the membrane is depolarized. In the nervous system, Cav channels control a broad array of functions including neurotransmitter release, neurite outgrowth, synaptogenesis, neuronal excitability, activity-dependent gene expression, and neuron survival, differentiation, and plasticity. Cav2.1 (P/Q-type) channels have a dominant, specific role in synaptic transmission at central excitatory synapses. In CACNA1A gene mutations, changes to the pore-forming a1 subunit of the Cav2.1 channel cause several autosomal-dominant neurological disorders in humans including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2), spinocerebellar ataxia type 6 (SCA6), and epilepsy. Mice with mutations in the Cacna1a gene are a useful tool for obtaining insights into disease processes and defining channel functions. Mouse Cav2.1 mutants include FHM1 model strains, including R192Q and S218L knockin mice, a SCA6 model strain carrying additional CAG repeats in the cacna1a locus of knockin mice, a knockout strain lacking Cav2.1 currents, and spontaneous strains that include rocker, tottering, rolling Nagoya, leaner, tottering-4j, tottering-5j, and wobbly mice. This chapter summarizes the human disease phenotypes and functional consequences of disease-causing mutations expressed in cell culture models, and overviews the results that Cav2.1 mutant mice have provided regarding the disease mechanisms of Cav2.1 channelopathy and the functions of Cav2.1 channels.

Original languageEnglish
Title of host publicationCalcium Signaling
PublisherNova Science Publishers, Inc.
Number of pages10
ISBN (Print)9781613243138
Publication statusPublished - Feb 2012
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)


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