Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Aged, 80 and over
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Amino Acid Sequence
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Amino Acid Substitution
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Auditory Perceptual Disorders / genetics*
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Chromosomes, Human, Pair 10 / genetics
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DNA Mutational Analysis
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Epilepsy, Temporal Lobe / genetics*
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Exons / genetics
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Female
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Genes, Dominant
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Humans
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Intracellular Signaling Peptides and Proteins
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Italy
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Male
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Molecular Sequence Data
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Mutation, Missense*
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Pedigree
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Point Mutation*
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Protein Structure, Tertiary
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Proteins / genetics*
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Proteins / physiology
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Sequence Alignment
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Sequence Homology, Amino Acid
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Tinnitus / genetics
Substances
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Intracellular Signaling Peptides and Proteins
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LGI1 protein, human
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Proteins