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Nat Rev Neurol. 2012 Jan 17;8(2):86-96. doi: 10.1038/nrneurol.2011.228.

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

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1
Medical Research Council Center for Neuromuscular Diseases, Box 102, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

Abstract

The past two decades have witnessed the emergence of a new and expanding field of neurological diseases--the genetic ion channelopathies. These disorders arise from mutations in genes that encode ion channel subunits, and manifest as paroxysmal attacks involving the brain or spinal cord, and/or muscle. The voltage-gated P/Q-type calcium channel (P/Q channel) is highly expressed in the cerebellum, hippocampus and cortex of the mammalian brain. The P/Q channel has a fundamental role in mediating fast synaptic transmission at central and peripheral nerve terminals. Autosomal dominant mutations in the CACNA1A gene, which encodes voltage-gated P/Q-type calcium channel subunit α(1) (the principal pore-forming subunit of the P/Q channel) are associated with episodic and progressive forms of cerebellar ataxia, familial hemiplegic migraine, vertigo and epilepsy. This Review considers, from both a clinical and genetic perspective, the various neurological phenotypes arising from inherited P/Q channel dysfunction, with a focus on recent advances in the understanding of the pathogenetic mechanisms underlying these disorders.

PMID:
22249839
DOI:
10.1038/nrneurol.2011.228
[Indexed for MEDLINE]

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