Article
PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
European journal of neurology - 1 Jan 2014
Chen Y P, Song W, Yang J, Zheng Z-Z, Huang R, Chen K, Zhao B, Chen X P, Burgunder J-M, Shang H-F
Abstract excerpt
BACKGROUND AND PURPOSE: Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown. METHODS: Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study. RESULTS:...
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