Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

Ann Neurol. 2003 Mar;53(3):396-9. doi: 10.1002/ana.10492.

Abstract

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acoustic Stimulation / adverse effects
  • Adult
  • Amino Acid Sequence / genetics
  • Epilepsy, Reflex / genetics*
  • Epilepsy, Reflex / physiopathology
  • Female
  • Genetic Linkage / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Proteins / genetics*

Substances

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