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Paroxysmal choreoathetosis
- ... 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 ...
- ... 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( ...