Linked Life Data

21091316

Source:http://linkedlifedata.com/resource/pubmed/id/21091316

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2010-11-24
pubmed:abstractText
Autosomal dominant frontal lobe epilepsy (ADNFLE) can be caused by mutations in either the ?4 or ?2 subunit of the neuronal nicotinic Ach receptor. In vitro expression studies in Xenopus oocytes or human embryonic kidney cells have been proven to be valuable tools for the characterization of these mutations, but they do not fully resemble the situation in vivo. Compared with them, animal models have the advantage that the functional consequences of a given mutation can be studied in the complex context of an intact living organism. Recent transgenic and knock-in animal models and their valuable contributions to our current understanding of ADNFLE epileptogenesis are discussed in this article. Several of the mouse and rat models support the hypothesis that ADNFLE mutations cause seizures mainly by increasing GABAergic inhibition, and a conditional knock-in mouse model adds early embryonal structural changes as another possible pathogenetic mechanism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1744-8360
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1859-67
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.
pubmed:affiliation
Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University of Munich, Goethestrasse 29, Munich, Germany. ortrud.steinlein@med.uni-muenchen.de
pubmed:publicationType
Journal Article, Review