Linked Life Data

12601709

Source:http://linkedlifedata.com/resource/pubmed/id/12601709

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2003-2-25
pubmed:abstractText
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
396-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
pubmed:affiliation
Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy. a.pizzuti@css-mendel.it
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't