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Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias

Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmissi...

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Autors principals: Rajakulendran, Sanjeev, Schorge, Stephanie, Kullmann, Dimitri M, Hanna, Michael G
Format: Artigo
Idioma:Inglês
Publicat: Biology Reports 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948357/
https://ncbi.nlm.nih.gov/pubmed/20948794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3410/B2-4
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