PRRT2 Is a Key Component of the Ca2+-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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Bibliographic Details
Main Authors: Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura, Fabrizia C. Guarnieri, Antonella Marte, Marta Orlando, Federico Zara, Anna Fassio, Flavia Valtorta, Pietro Baldelli, Anna Corradi, Fabio Benfenati
Format: Article
Language:English
Published: Elsevier 2016-04-01
Series:Cell Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124716302455