Article
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.
Genes, brain, and behavior - 1 Mar 2013
Liu X-R, Wu M, He N, Meng H, Wen L, Wang J-L, Zhang M-P, Li W-B, Mao X, Qin J-M, Li B-M, Tang B, Deng Y-H, Shi Y-W, Su T, Yi Y-H, Tang B-S, Liao W-P
Abstract excerpt
Paroxysmal dyskinesias (PDs) are a group of episodic movement disorders with marked variability in clinical manifestation and potential association with epilepsy. PRRT2 has been identified as a causative gene for PDs, but the phenotypes and inheritance patterns of PRRT2 mutations need further clarification. In this study, 10 familial and 21 sporadic cases with PDs and PDs-related phenotypes were collected....
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