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Article

Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.

Journal of cellular physiology - 1 Feb 2008

Jeng Chung-Jiuan, Sun Min-Chen, Chen Yi-Wen, Tang Chih-Yung

Abstract excerpt

Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder associated with mutations in the gene encoding pore-forming alpha(1A) subunits of human P/Q-type calcium (Ca(V)2.1) channels. The exact mechanism of how mutant channels cause such clinical EA2 features as cerebellar dysfu...

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Identifiers

PMID: 17654512
DOI: 10.1002/jcp.21216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17654512-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.PMID 17654512Read ↗

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