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

Elodie Chabrol; Isabelle Gourfinkel-An; Ingrid Scheffer; Fabienne Picard; Philippe Couarch; Samuel Berkovic; Jacinta Mcmahon; Nandita Bajaj; Luisa Mota-Vieira; Rui Mota; Oriane Trouillard; Christel Depienne; Michel Baulac; Eric Leguern; Stéphanie Baulac

doi:10.1016/j.eplepsyres.2007.06.014

Journal articles

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

Elodie Chabrol ¹ Isabelle Gourfinkel-An ^{1, 2} Ingrid Scheffer ^{3, 4} Fabienne Picard ⁵ Philippe Couarch ¹ Samuel Berkovic ³ Jacinta Mcmahon ³ Nandita Bajaj ⁶ Luisa Mota-Vieira ⁷ Rui Mota ⁷ Oriane Trouillard ⁸ Christel Depienne ^{1, 8} Michel Baulac ² Eric Leguern ^{1, 8} Stéphanie Baulac ^{1, *}

* Corresponding author

1 Neurologie et thérapeutique expérimentale

2 Service de neurologie 1 [CHU Pitié-Salpétrière]

3 Epilepsy Research Centre

4 Department of Paediatrics [Melbourne]

5 Department of Neurology

6 Epilepsy clinic

7 Hospital do Divino Espirito Santo

8 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]

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.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC]

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

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

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