Linked Life Data

18263761

Source:http://linkedlifedata.com/resource/pubmed/id/18263761

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2008-2-11
pubmed:abstractText
Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4/5 patients) and is, therefore, less sensitive than mutation testing.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0883-0738
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
240-2
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.
pubmed:affiliation
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't