Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive missense mutations have been reported. Here we desc...

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Publicado en:PLoS Genet
Main Authors: Dazzo, Emanuela, Leonardi, Emanuela, Belluzzi, Elisa, Malacrida, Sandro, Vitiello, Libero, Greggio, Elisa, Tosatto, Silvio C. E., Nobile, Carlo
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2016
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070869/
https://ncbi.nlm.nih.gov/pubmed/27760137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006376
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