Linked Life Data

21075014

Source:http://linkedlifedata.com/resource/pubmed/id/21075014

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-1-3
pubmed:abstractText
Unverricht-Lundborg disease (EPM1) is the most common form of progressive myoclonus epilepsies. The genetic background is a homozygous dodecamer repeat extension mutation in the cystatin B (CSTB) gene. However, mutations occurring in a compound heterozygous form with the expansion mutation have also been reported. In Finland, we have found five EPM1 patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene (chEPM1). There are no previous clinical or neurophysiological studies on these patients. Thus, we aimed to characterize possible functional alterations in primary motor cortical areas.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1532-2688
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
65-71
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).
pubmed:affiliation
Department of Clinical Neurophysiology, Institute of Clinical Medicine, School of Medicine, University of Eastern Finland and Kuopio University Hospital, POB 1777, FIN-70211 Kuopio, Finland. danner@hytti.uku.fi
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't