Browsing Externally hosted open access publications with University of Galway authors (2) by Author "Valente, E.-M."

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    • Prrt2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine 

      Gardiner, A. R.; Bhatia, K. P.; Stamelou, M.; Dale, R. C.; Kurian, M. A.; Schneider, S. A.; Wali, G. M.; Counihan, T.; Schapira, A. H.; Spacey, S. D.; Valente, E.-M.; Silveira-Moriyama, L.; Teive, H. A. G.; Raskin, S.; Sander, J. W.; Lees, A.; Warner, T.; Kullmann, D. M.; Wood, N. W.; Hanna, M.; Houlden, H. (Ovid Technologies (Wolters Kluwer Health), 2012-10-17)
      Objective: The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions ...