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LGI1 mutations in temporal lobe epilepsies.

S F Berkovic1, P Izzillo, J M McMahon

  • 1Epilepsy Research Institute and Department of Medicine, University of Melbourne, Victoria, Australia. s.berkovic@unimelb.edu.au

Neurology
|April 14, 2004
PubMed
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Mutations in the LGI1 gene are specific to autosomal dominant partial epilepsy with auditory features (ADPEAF), a type of familial temporal lobe epilepsy (TLE). However, not all ADPEAF cases are caused by LGI1 mutations, indicating genetic heterogeneity.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Familial temporal lobe epilepsies (TLE) are increasingly recognized.
  • Mutations in the leucine-rich, glioma-inactivated 1 gene (LGI1) are linked to autosomal dominant partial epilepsy with auditory features (ADPEAF).

Purpose of the Study:

  • To define the range of TLE phenotypes associated with LGI1 mutations.
  • To assess the prevalence of LGI1 mutations in ADPEAF.
  • To investigate the role of LGI1 paralogs in ADPEAF cases lacking LGI1 mutations.

Main Methods:

  • Clinical and molecular analysis of 75 pedigrees (54 familial TLE, 21 sporadic TLE).
  • Screening for LGI1 mutations in all cases.
  • Screening for LGI2, LGI3, and LGI4 mutations in ADPEAF families negative for LGI1 mutations.

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Main Results:

  • LGI1 mutations were identified in two of four ADPEAF families.
  • No LGI1 mutations were found in other familial TLE syndromes or sporadic TLE cases.
  • Novel missense mutations in LGI1 exons 1 and 8 were identified. Mutations in LGI2, LGI3, or LGI4 were not found in the remaining ADPEAF families.

Conclusions:

  • LGI1 mutations are specific to ADPEAF within the spectrum of TLE but do not account for all cases.
  • ADPEAF exhibits genetic heterogeneity, with LGI1 paralogs not explaining the genetic basis in LGI1-negative families.