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The P/Q-type Ca V 2.1 channel regulates neurotransmitter release at neuromuscular junctions (NMJ) and many central synapses.  CACNA1A  encodes the pore-containing α 1A  subunit of Ca V 2.1 channels. In humans,  de novo CACNA1A  mutations result in a wide spectrum of neurological, neuromuscular, and movement disorders, such as familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2), as well as a more recently discovered class of more severe disorders, which are characterized by ataxia, hypotonia, cerebellar atrophy, and cognitive/developmental delay. Heterologous expression of Ca V 2.1 channels has allowed for an understanding of the consequences of  CACNA1A  missense mutations on channel function. In contrast, a mechanistic understanding of how specific  CACNA1A  mutations lead  in vivo  to the resultant phenotypes is lacking. In this review, we present the zebrafish as a model to both study  in vivo  mechanisms of  CACNA1A  mutations that result in synaptic and behavioral defects and to screen for effective drug therapies to combat these and other Ca V 2.1 channelopathies.

Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies