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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2003-5-28
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pubmed:abstractText |
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare idiopathic epilepsy syndrome caused by mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene. The authors report that molecular genetic studies in seven affected family members identified a novel F318C substitution that alters a highly conserved residue in a predicted repeat domain of unknown function. This report suggests that this domain may participate in the development of the ADPEAF phenotype.
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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 |
May
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
27
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1687-90
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12771268-Aged,
pubmed-meshheading:12771268-Aged, 80 and over,
pubmed-meshheading:12771268-Amino Acid Sequence,
pubmed-meshheading:12771268-Amino Acid Substitution,
pubmed-meshheading:12771268-Auditory Perceptual Disorders,
pubmed-meshheading:12771268-Chromosomes, Human, Pair 10,
pubmed-meshheading:12771268-DNA Mutational Analysis,
pubmed-meshheading:12771268-Epilepsy, Temporal Lobe,
pubmed-meshheading:12771268-Exons,
pubmed-meshheading:12771268-Female,
pubmed-meshheading:12771268-Genes, Dominant,
pubmed-meshheading:12771268-Humans,
pubmed-meshheading:12771268-Italy,
pubmed-meshheading:12771268-Male,
pubmed-meshheading:12771268-Molecular Sequence Data,
pubmed-meshheading:12771268-Mutation, Missense,
pubmed-meshheading:12771268-Pedigree,
pubmed-meshheading:12771268-Point Mutation,
pubmed-meshheading:12771268-Protein Structure, Tertiary,
pubmed-meshheading:12771268-Proteins,
pubmed-meshheading:12771268-Sequence Alignment,
pubmed-meshheading:12771268-Sequence Homology, Amino Acid,
pubmed-meshheading:12771268-Tinnitus
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pubmed:year |
2003
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pubmed:articleTitle |
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.
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pubmed:affiliation |
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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