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Article

Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 16 Mar 2011

Mark Melanie D, Maejima Takashi, Kuckelsberg Denise, Yoo Jong W, Hyde Robert A, Shah Viral, Gutierrez Davina, Moreno Rosa L, Kruse Wolfgang, Noebels Jeffrey L, Herlitze Stefan

Abstract excerpt

Inherited loss of P/Q-type calcium channel function causes human absence epilepsy, episodic dyskinesia, and ataxia, but the molecular "birthdate" of the neurological syndrome and its dependence on prenatal pathophysiology is unknown. Since these channels mediate transmitter release at synapses throughout the brain and are expressed early in embryonic development, delineating the critical circuitry and onset...

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Identifiers

PMID: 21411672
DOI: 10.1523/JNEUROSCI.5342-10.2011
PMCID: PMC3065835

Genes

PC
PCP2

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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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