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Results 1 - 5 of 5 for Paroxysmal choreoathetosis
  1. Familial paroxysmal nonkinesigenic dyskinesia 
    ... condition, a situation known as reduced penetrance. Familial paroxysmal choreoathetosis Mount-Reback syndrome Nonkinesigenic choreoathetosis Paroxysmal dystonic choreoathetosis ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  2. PNKD gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pnkd - Genetics
  3. Familial paroxysmal kinesigenic dyskinesia 
    ... Dystonia 10 Episodic kinesigenic dyskinesia Familial paroxysmal dystonia Paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic dyskinesia Genetic Testing Registry: Episodic kinesigenic ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  4. GLUT1 deficiency syndrome 
    ... be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  5. PRRT2 gene 
    ... 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( ...
    https://medlineplus.gov/genetics/gene/prrt2 - Genetics