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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2004-4-13
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pubmed:abstractText |
A number of familial temporal lobe epilepsies (TLE) have been recently recognized. Mutations in LGI1 (leucine-rich, glioma-inactivated 1 gene) have been found in a few families with the syndrome of autosomal dominant partial epilepsy with auditory features (ADPEAF). The authors aimed to determine the spectrum of TLE phenotypes with LGI1 mutations, to study the frequency of mutations in ADPEAF, and to examine the role of LGI1 paralogs in ADPEAF without LGI1 mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BerkovicS FSF,
pubmed-author:BriellmannR SRS,
pubmed-author:HarkinL ALA,
pubmed-author:IzzilloPP,
pubmed-author:KorczynA DAD,
pubmed-author:MazarinMM,
pubmed-author:McIntoshA MAM,
pubmed-author:McMahonJ MJM,
pubmed-author:MulleyJ CJC,
pubmed-author:NeufeldM YMY,
pubmed-author:PhillipsH AHA,
pubmed-author:SchefferI EIE,
pubmed-author:WallaceR HRH
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pubmed:issnType |
Electronic
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pubmed:day |
13
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1115-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15079010-Adult,
pubmed-meshheading:15079010-Age of Onset,
pubmed-meshheading:15079010-Aged,
pubmed-meshheading:15079010-Amino Acid Sequence,
pubmed-meshheading:15079010-Animals,
pubmed-meshheading:15079010-Conserved Sequence,
pubmed-meshheading:15079010-DNA Mutational Analysis,
pubmed-meshheading:15079010-Epilepsy, Partial, Sensory,
pubmed-meshheading:15079010-Epilepsy, Temporal Lobe,
pubmed-meshheading:15079010-Extracellular Matrix Proteins,
pubmed-meshheading:15079010-Family,
pubmed-meshheading:15079010-Female,
pubmed-meshheading:15079010-Genes, Dominant,
pubmed-meshheading:15079010-Genetic Testing,
pubmed-meshheading:15079010-Humans,
pubmed-meshheading:15079010-Male,
pubmed-meshheading:15079010-Mice,
pubmed-meshheading:15079010-Middle Aged,
pubmed-meshheading:15079010-Molecular Sequence Data,
pubmed-meshheading:15079010-Mutation, Missense,
pubmed-meshheading:15079010-Pedigree,
pubmed-meshheading:15079010-Proteins,
pubmed-meshheading:15079010-Rats,
pubmed-meshheading:15079010-Sequence Alignment
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pubmed:year |
2004
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pubmed:articleTitle |
LGI1 mutations in temporal lobe epilepsies.
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pubmed:affiliation |
Epilepsy Research Institute and Department of Medicine, University of Melbourne, Victoria, Australia. s.berkovic@unimelb.edu.au
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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