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: Evan Fertig, Anne Lincoln, Andrea Martinuzzi, Richard H Mattson, Fuki M Hisama
• Journal: Neurology (Neurology) Vol. 60 Issue 10 Pg. 1687-90 (May 27 2003) ISSN: 1526-632X [Electronic] United States
• PMID: 12771268 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Intracellular Signaling Peptides and Proteins
• LGI1 protein, human
• Proteins

Topics

• Aged
• Aged, 80 and over
• Amino Acid Sequence
• Amino Acid Substitution
• Auditory Perceptual Disorders (genetics)
• Chromosomes, Human, Pair 10 (genetics)
• DNA Mutational Analysis
• Epilepsy, Temporal Lobe (genetics)
• Exons (genetics)
• Female
• Genes, Dominant
• Humans
• Intracellular Signaling Peptides and Proteins
• Italy
• Male
• Molecular Sequence Data
• Mutation, Missense
• Pedigree
• Point Mutation
• Protein Structure, Tertiary
• Proteins (genetics, physiology)
• Sequence Alignment
• Sequence Homology, Amino Acid
• Tinnitus (genetics)