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Results 1 - 10 of 14 for myoclonus
  1. EPM2A gene 
    ... have been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single protein ... lead to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of laforin ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  2. SGCE gene 
    ... the SGCE gene have been found to cause myoclonus-dystonia, which is a movement disorder characterized by ... muscle twitches in the neck, torso, and arms (myoclonus). Most of these mutations lead to an abnormally ...
    https://medlineplus.gov/genetics/gene/sgce - Genetics
  3. NHLRC1 gene 
    ... have been identified in people with Lafora progressive myoclonus epilepsy. Many of these mutations change single protein ... lead to the major features of Lafora progressive myoclonus epilepsy. Studies suggest that a loss of malin ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  4. CSTB gene 
    ... promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1- ... lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  5. SCARB2 gene 
    ... the SCARB2 gene have been associated with action myoclonus–renal failure (AMRF) syndrome. This rare condition causes ... particularly when trying to make intentional movements (action myoclonus). Another common feature of AMRF syndrome is kidney ( ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  6. PRICKLE1 gene 
    ... been identified in people with PRICKLE1-related progressive myoclonus epilepsy with ataxia. Each mutation changes a single ... and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  7. MT-TS1 gene 
    ... these cases, affected individuals typically have muscle twitches (myoclonus), muscle weakness (myopathy), difficulty coordinating movement (ataxia), hearing ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  8. TBC1D24 gene 
    ... including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in impairment ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. MFSD8 gene 
    ... skills (developmental regression), recurrent seizures (epilepsy), muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  10. SERPINI1 gene 
    ... episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
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