PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery

Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of the mutations lead to impaired PRRT2 expression, suggesting that loss of PRRT2 function may contribute to pathogenesis. W...

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Detalles Bibliográficos
Autores principales: Valente, Pierluigi, Castroflorio, Enrico, Rossi, Pia, Fadda, Manuela, Sterlini, Bruno, Cervigni, Romina Ines, Prestigio, Cosimo, Giovedì, Silvia, Onofri, Franco, Mura, Elisa, Guarnieri, Fabrizia C., Marte, Antonella, Orlando, Marta, Zara, Federico, Fassio, Anna, Valtorta, Flavia, Baldelli, Pietro, Corradi, Anna, Benfenati, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826441/
https://www.ncbi.nlm.nih.gov/pubmed/27052163
http://dx.doi.org/10.1016/j.celrep.2016.03.005

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