Skip to Main content Skip to Navigation
Journal articles

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

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.
Complete list of metadatas

Cited literature [22 references]  Display  Hide  Download
Contributor : Stéphanie Baulac <>
Submitted on : Saturday, July 26, 2008 - 11:20:19 AM
Last modification on : Thursday, December 10, 2020 - 3:42:27 AM
Long-term archiving on: : Saturday, November 26, 2016 - 12:05:32 AM


 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document



Elodie Chabrol, Isabelle Gourfinkel-An, Ingrid Scheffer, Fabienne Picard, Philippe Couarch, et al.. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.. Epilepsy Research, Elsevier, 2007, 76 (1), pp.41-8. ⟨10.1016/j.eplepsyres.2007.06.014⟩. ⟨inserm-00306474⟩



Record views