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Article Dans Une Revue Pflügers Archiv European Journal of Physiology Année : 2020

Neuronal Cav3 channelopathies: recent progress and perspectives

Résumé

T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are involved in a wide variety of physiological functions, especially in nervous systems. Their unique electrophysiological properties allow them to finely regulate neuronal excitability and to contribute to sensory processing, sleep, and hormone and neurotransmitter release. In the last two decades, genetic studies, including exploration of knockout mouse models, have greatly contributed to elucidate the role of Cav3 channels in normal physiology, their regulation, and their implication in diseases. Mutations in genes encoding Cav3 channels (CACNA1G, CACNA1H, and CACNA1I) have been linked to a variety of neurodevelopmental, neurological, and psychiatric diseases designated here as neuronal Cav3 channelopathies. In this review, we describe and discuss the clinical findings and supporting in vitro and in vivo studies of the mutant channels, with a focus on de novo, gain-of-function missense mutations recently discovered in CACNA1G and CACNA1H. Overall, the studies of the Cav3 channelopathies help deciphering the pathogenic mechanisms of corresponding diseases and better delineate the properties and physiological roles Cav3 channels.
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Dates et versions

hal-02893632 , version 1 (08-07-2020)

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Philippe Lory, Sophie Nicole, Arnaud Monteil. Neuronal Cav3 channelopathies: recent progress and perspectives. Pflügers Archiv European Journal of Physiology, 2020, ⟨10.1007/s00424-020-02429-7⟩. ⟨hal-02893632⟩
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