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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2009-11-2
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pubmed:abstractText |
Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal ataxia and migraine, respectively. Point mutations in CACNA1A, which encodes the neuronal P/Q-type calcium channel, have been detected in many cases of EA2 and FHM1. The genetic basis of typical cases without CACNA1A point mutations is not fully known. Standard DNA sequencing methods may miss large scale genetic rearrangements such as deletions and duplications. The authors investigated whether large scale genetic rearrangements in CACNA1A can cause EA2 and FHM1.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:Al-MemarAA,
pubmed-author:BevanRR,
pubmed-author:BrittonTT,
pubmed-author:CaroL GLG,
pubmed-author:DavisM BMB,
pubmed-author:EunsonL HLH,
pubmed-author:GravesT DTD,
pubmed-author:HammansS RSR,
pubmed-author:HannaM GMG,
pubmed-author:KennedyC RCR,
pubmed-author:KullmannD MDM,
pubmed-author:LabrumR WRW,
pubmed-author:OstergaardJ RJR,
pubmed-author:RajakulendranSS,
pubmed-author:SchorgeSS,
pubmed-author:SweeneyM GMG,
pubmed-author:TempleKK,
pubmed-author:TubridyNN
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pubmed:issnType |
Electronic
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
786-91
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19586927-Adolescent,
pubmed-meshheading:19586927-Adult,
pubmed-meshheading:19586927-Ataxia,
pubmed-meshheading:19586927-Calcium Channels,
pubmed-meshheading:19586927-Child,
pubmed-meshheading:19586927-Child, Preschool,
pubmed-meshheading:19586927-Family,
pubmed-meshheading:19586927-Female,
pubmed-meshheading:19586927-Gene Rearrangement,
pubmed-meshheading:19586927-Genetic Linkage,
pubmed-meshheading:19586927-Humans,
pubmed-meshheading:19586927-Male,
pubmed-meshheading:19586927-Migraine with Aura,
pubmed-meshheading:19586927-Pedigree,
pubmed-meshheading:19586927-Polymerase Chain Reaction
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pubmed:year |
2009
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pubmed:articleTitle |
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
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pubmed:affiliation |
MRC Centre for Neuromuscular Diseases, Institute of Neurology, UCL, London WC1N 3BG, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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