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Article

Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.

American journal of physiology. Cell physiology - 1 Apr 2006

Jeng Chung-Jiuan, Chen Yu-Ting, Chen Yi-Wen, Tang Chih-Yung

Abstract excerpt

Episodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder related to cerebellar dysfunction and is associated with mutations in the pore-forming alpha(1A)-subunits of human P/Q-type Ca(2+) channels (Cav2.1 channels). The majority of EA2 mutations result in significant loss-of-function phenotypes. Whether EA2 mutants may display dominant-negative effects in human, however, remains controversial. To...

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PMID: 16306128
DOI: 10.1152/ajpcell.00247.2005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.PMID 16306128Read ↗

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