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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
4
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pubmed:dateCreated |
2003-4-22
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|
pubmed:abstractText |
Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6.
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pubmed:language |
eng
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pubmed:journal |
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|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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|
pubmed:issn |
0003-9942
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
610-4
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12707077-Adolescent,
pubmed-meshheading:12707077-Adult,
pubmed-meshheading:12707077-Alanine,
pubmed-meshheading:12707077-Child,
pubmed-meshheading:12707077-Cysteine,
pubmed-meshheading:12707077-Female,
pubmed-meshheading:12707077-Genetic Linkage,
pubmed-meshheading:12707077-Glycine,
pubmed-meshheading:12707077-Hemiplegia,
pubmed-meshheading:12707077-Humans,
pubmed-meshheading:12707077-Lod Score,
pubmed-meshheading:12707077-Male,
pubmed-meshheading:12707077-Microsatellite Repeats,
pubmed-meshheading:12707077-Middle Aged,
pubmed-meshheading:12707077-Migraine Disorders,
pubmed-meshheading:12707077-Mutation, Missense,
pubmed-meshheading:12707077-Phenotype,
pubmed-meshheading:12707077-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:12707077-Spinocerebellar Ataxias
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|
pubmed:year |
2003
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pubmed:articleTitle |
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
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|
pubmed:affiliation |
UnIGENe, IBMC, and Laboratório de Genética Médica, ICABS, Universidade do Porto, Portugal.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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