Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Epilepsy Res. 2007 Aug;76(1):41-8. doi: 10.1016/j.eplepsyres.2007.06.014. Epub 2007 Aug 6.

Abstract

Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that ADLTE is a genetically heterogeneous disorder. Recently, it was shown that LGI1 is released by neurons and becomes part of a protein complex at the neuronal postsynaptic density where it is implicated in the regulation of glutamate-AMPA neurotransmission. Within this complex, LGI1 binds selectively to a neuronal specific membrane protein, ADAM22 (a disintegrin and metalloprotease). Since ADAM22 serves as a neuronal receptor for LGI1, the ADAM22 gene was considered a good candidate gene for ADLTE. We have therefore sequenced all coding exons and exon-intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADAM Proteins / genetics*
  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis / methods
  • Epilepsy, Temporal Lobe / genetics*
  • Family Health*
  • Female
  • Genetic Testing / methods
  • Humans
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*

Substances

  • Nerve Tissue Proteins
  • ADAM Proteins
  • ADAM22 protein, human