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Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Identifieur interne : 000241 ( Pmc/Corpus ); précédent : 000240; suivant : 000242

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Auteurs : Hsien Lee ; Yong Huang ; Nadine Bruneau ; Patrice Roll ; Elisha Roberson ; Mark Hermann ; Emily Quinn ; James Maas ; Robert Edwards ; Tetsuo Ashizawa ; Betul Baykan ; Kailash Bhatia ; Susan Bressman ; Michiko Bruno ; Ewout Brunt ; Roberto Caraballo ; Bernard Echenne ; Natalio Fejerman ; Steve Frucht ; Christina Gurnett ; Edouard Hirsch ; Henry Houlden ; Joseph Jankovic ; Wei Lee ; David Lynch ; Shehla Mohamed ; Ulrich Müller ; Mark Nespeca ; David Renner ; Jacques Rochette ; Gabrielle Rudolf ; Shinji Saiki ; Bing Soong ; Kathryn Swoboda ; Sam Tucker ; Nicholas Wood ; Michael Hanna ; Anne Bowcock ; Pierre Szepetowski ; Ying Fu ; Louis Ptá

Source :

RBID : PMC:3334308

Abstract

Summary

Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the PRRT2 gene in the vast majority (24/25) of well characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. The PRRT2 gene encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture and mutants associated with PKD/IC lead to dramatically reduced PRRT2 protein levels leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.


Url:
DOI: 10.1016/j.celrep.2011.11.001
PubMed: 22832103
PubMed Central: 3334308

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