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Results 1 - 2 of 2 for Paroxysmal choreoathetosis
  1. ... Fink JK. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004 Jul;61(7):1025-9. doi: 10.1001/archneur.61.7.1025. Citation on PubMed Shen Y, Ge WP, ... mutated in paroxysmal dyskinesia interacts with the active zone protein RIM ...
  2. ... Tests of PRRT2 PubMed CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2 NCBI Gene ClinVar ... identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Nov 20;43( ...