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Article

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission

27 Nov 2001

Abstract excerpt

OBJECTIVE: To examine the functional consequences of episodic ataxia type 2 (EA2)-causing nonsense and missense mutations in vitro and to characterize the basis of fluctuating weakness in patients with E2A. BACKGROUND: Mutations in CACNA1A encoding the Ca(v)2.1 calcium channel subunit cause EA2 through incompletely understood mechanisms. Although the Ca(v)2.1 subunit is important for neurotransmission at the...

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PMID: 11723274
DOI: 10.1212/wnl.57.10.1843

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