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Article

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

Genes, brain, and behavior - 1 Nov 2007

Xie G, Clapcote S J, Nieman B J, Tallerico T, Huang Y, Vukobradovic I, Cordes S P, Osborne L R, Rossant J, Sled J G, Henderson J T, Roder J C

Abstract excerpt

Dominant mutations of the P/Q-type Ca(2+) channel (CACNA1A) underlie several human neurological disorders, including episodic ataxia type 2, familial hemiplegic migraine 1 (FHM1) and spinocerebellar ataxia 6, but have not been found previously in the mouse. Here we report the first dominant ataxi...

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PMID: 17376154
DOI: 10.1111/j.1601-183X.2007.00302.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17376154-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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