Linked Life Data

10643919

Source:http://linkedlifedata.com/resource/pubmed/id/10643919

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-1-28
pubmed:abstractText
Voltage-dependent calcium channel mutations have been associated with spinocerebellar ataxia in humans (SCA6) and with ataxia, progressive cerebellar degeneration, and epilepsy in mice (tottering, lethargic, and stargazer). A novel autosomal dominant spinocerebellar ataxia syndrome with epilepsy (SCA10) was recently mapped to chromosome 22q13. The human ortholog of the mouse stargazer locus, the calcium channel gamma subunit gene CACNG2, also is located in this region. Because the phenotypes of stargazer mice and SCA10 patients were similar, consisting of both cerebellar ataxia and seizures, we hypothesized that CACNG2 was a likely candidate for the SCA10 locus.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0013-9580
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
24-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.
pubmed:affiliation
Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA. dburgess@bcm.tmc.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't