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Scientific article
English

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

Published inEpilepsy research, vol. 76, no. 1, p. 41-48
Publication date2007-08
First online date2007-08-06
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.

eng
Keywords
  • 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
  • Autosomal dominant lateral temporal epilepsy
  • LGI1
  • ADAM22
  • Genetics
Citation (ISO format)
CHABROL, Elodie et al. Absence of mutations in the LGI1 receptor <i>ADAM22</i> gene in autosomal dominant lateral temporal epilepsy. In: Epilepsy research, 2007, vol. 76, n° 1, p. 41–48. doi: 10.1016/j.eplepsyres.2007.06.014
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Article (Published version)
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ISSN of the journal0920-1211
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