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Results 1 - 10 of 29 for Paroxysmal dyskinesia
  1. Familial paroxysmal nonkinesigenic dyskinesia 
    ... 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/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  2. Familial paroxysmal kinesigenic dyskinesia 
    ... P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA- ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  3. Chorea-acanthocytosis 
    Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by ...
    https://medlineplus.gov/genetics/condition/chorea-acanthocytosis - Genetics
  4. 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
  5. Huntington's disease 
    ... develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more ... Huntington's disease (36 repeats or more). Huntington chorea Huntington chronic progressive hereditary chorea Huntington disease Huntington' ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease - Genetics
  6. 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
  7. Costeff syndrome 
    ... Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  8. 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
  9. 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
  10. Brain-lung-thyroid syndrome 
    ... Such cases are sometimes called isolated benign hereditary chorea.Nearly everyone with brain-lung-thyroid syndrome has brain-related movement abnormalities. Benign hereditary chorea is the most common feature of the syndrome. ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
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