| CaV2.1 channelopathies. | |
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MedLine Citation:
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PMID: 20204399 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). For each channelopathy, the review describes the disease phenotype as well as the functional consequences of the disease-causing mutations on recombinant human CaV2.1 channels and, in the case of FHM1 and SCA6, on neuronal CaV2.1 channels expressed at the endogenous physiological level in knockin mouse models. The effects of FHM1 mutations on cortical spreading depression, the phenomenon underlying migraine aura, and on cortical excitatory and inhibitory synaptic transmission in FHM1 knockin mice are also described, and their implications for the disease mechanism discussed. Moreover, the review describes different ataxic spontaneous cacna1a mouse mutants and the important insights into the cerebellar mechanisms underlying motor dysfunction caused by mutant CaV2.1 channels that were obtained from their functional characterization. |
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Authors:
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Daniela Pietrobon |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-03-04 |
Journal Detail:
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Title: Pflügers Archiv : European journal of physiology Volume: 460 ISSN: 1432-2013 ISO Abbreviation: Pflugers Arch. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-06-14 Completed Date: 2010-09-13 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 0154720 Medline TA: Pflugers Arch Country: Germany |
Other Details:
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Languages: eng Pagination: 375-93 Citation Subset: IM |
Affiliation:
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Department of Biomedical Sciences, University of Padova, 35121, Padua, Italy. daniela.pietrobon@unipd.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Ataxia / genetics Calcium Channels / genetics Calcium Channels, N-Type / genetics*, physiology Channelopathies / genetics* Cortical Spreading Depression / genetics Gene Knock-In Techniques Humans Mice Migraine with Aura / genetics Models, Animal Protein Structure, Secondary Recombinant Proteins / metabolism Spinocerebellar Ataxias / genetics Synaptic Transmission / genetics |
| Grant Support | |
ID/Acronym/Agency:
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GGP06234//Telethon |
| Chemical | |
Reg. No./Substance:
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0/CACNA1A protein, human; 0/Calcium Channels; 0/Calcium Channels, N-Type; 0/Recombinant Proteins; 0/voltage-dependent calcium channel (P-Q type) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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