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Article

Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.

Neurobiology of disease - 1 Oct 2017

Dorgans Kevin, Salvi Julie, Bertaso Federica, Bernard Ludivine, Lory Philippe, Doussau Frederic, Mezghrani Alexandre

Abstract excerpt

Episodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked to mutations in the Cav2.1 subunit of P/Q-type calcium channels. In vitro studies have established that EA2 mutations induce loss of channel activity and that EA2 mutants can exert a dominant negative effect, suppressing normal Cav2.1 activity through protein misfolding and trafficking defects. To date, the role of this mechanism in...

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Identifiers

PMID: 28688851
DOI: 10.1016/j.nbd.2017.07.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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