Linked Life Data

19268539

Source:http://linkedlifedata.com/resource/pubmed/id/19268539

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-6-15
pubmed:abstractText
Mutations in LGI1 have been reported in several families with autosomal dominant lateral temporal epilepsy. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1872-6844
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
118-22
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.
pubmed:affiliation
Service Epilepsie, Sommeil, Explorations Fonctionnelles Neurolopédiatriques et CTRS-IDEE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't