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Results 1 - 6 of 6 for Paroxysmal dyskinesia
  1. PNKD gene 
    ... LY, Fu YH, Ptacek LJ. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and ... Fu YH, Ptacek LJ. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. ...
    https://medlineplus.gov/genetics/gene/pnkd - Genetics
  2. PRRT2 gene 
    ... migraine. Rarely, PRRT2 gene variants are associated with paroxysmal dyskinesia during sleep (called paroxysmal hypnogenic dyskinesia) or recurrent ... Hanna M, Houlden H. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 2012 ...
    https://medlineplus.gov/genetics/gene/prrt2 - Genetics
  3. OPA3 gene 
    ... OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests of OPA3 PubMed OUTER ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  4. VPS13A gene 
    ... the VPS13A gene have been found to cause chorea-acanthocytosis. Most of these mutations insert or delete ... are specific to single families, although people with chorea-acanthocytosis who are French-Canadian or Japanese tend ...
    https://medlineplus.gov/genetics/gene/vps13a - Genetics
  5. ADCY5 gene 
    ... novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3): ... ADCY5 mutations are another cause of benign hereditary chorea. Neurology. 2015 Jul 7;85(1):80-8. ...
    https://medlineplus.gov/genetics/gene/adcy5 - Genetics
  6. NKX2-1 gene 
    ... common features of this syndrome are benign hereditary chorea, which involves involuntary jerking movements (chorea) of the face, torso, and limbs and other ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics