| Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. | |
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MedLine Citation:
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PMID: 22249839 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sanjeev Rajakulendran; Diego Kaski; Michael G Hanna |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-17 |
Journal Detail:
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Title: Nature reviews. Neurology Volume: - ISSN: 1759-4766 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101500072 Medline TA: Nat Rev Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Medical Research Council Center for Neuromuscular Diseases, Box 102, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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