PRRT2 mutations: exploring the phenotypical boundaries.

Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutation...

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Publicado en:	Journal of Neurology, Neurosurgery & Psychiatry Vol. 85; no. 4; pp. 462 - 466
Autores principales:	Djémié, Tania, Weckhuysen, Sarah, Holmgren, Philip, Hardies, Katia, Van Dyck, Tine, Hendrickx, Rik, Schoonjans, An-Sofie, Van Paesschen, Wim, Jansen, Anna C, De Meirleir, Linda, Selim, Laila Abdel Moteleb, Girgis, Marian Y, Buyse, Gunnar, Lagae, Lieven, Smets, Katrien, Smouts, Iris, Claeys, Kristl G, Van den Bergh, Vic, Grisar, Thierry, Blatt, Ilan
Formato:	research Journal Article
Publicado:	BMJ Publishing Group Apr2014
Acceso en línea:	Ver este registro en EBSCOhost