Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

Epilepsy Res. 2013 Dec;107(3):311-7. doi: 10.1016/j.eplepsyres.2013.09.008. Epub 2013 Oct 8.

Abstract

Mutations in LGI1 are found in 50% of families with autosomal dominant epilepsy with auditory features (ADEAF). In ADEAF, family members have predominantly lateral temporal lobe seizures but mesial temporal lobe semiology may also occur. We report here three families with novel LGI1 mutations (p.Ile82Thr, p.Glu225*, c.432-2_436del). Seven affected individuals reported an auditory aura and one a visual aura. A 10-year old boy described a cephalic aura followed by an unpleasant taste and oral automatisms without auditory, visual or psychic features.

Keywords: ADEAF; ADLTE; ADPEAF; LGI1; Temporal lobe seizures.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acoustic Stimulation / adverse effects
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Epilepsy, Reflex / diagnosis*
  • Epilepsy, Reflex / genetics*
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Photic Stimulation / adverse effects
  • Proteins / genetics*
  • Seizures / diagnosis*
  • Seizures / genetics*
  • Young Adult

Substances

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