title: Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.
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.
authors.affiliation: Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Evan
authors.initials: E
authors.lastname: Fertig
authors.forename: Anne
authors.initials: A
authors.lastname: Lincoln
authors.forename: Andrea
authors.initials: A
authors.lastname: Martinuzzi
authors.forename: Richard H
authors.initials: RH
authors.lastname: Mattson
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001308:Auditory Perceptual Disorders / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014012:Tinnitus / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins