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Results 1 - 10 of 12 for pme
  1. Spinal muscular atrophy with progressive myoclonic epilepsy 
    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that begins in childhood. SMA-PME causes muscle weakness and wasting (atrophy) and a ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  2. Progressive myoclonic epilepsy type 1 
    ... EPM1 EPM1A Myoclonic epilepsy of Unverricht and Lundborg PME Progressive myoclonic epilepsy 1A Progressive myoclonus epilepsy type ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  3. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... history of the disorder in their family. EPM1B PME with ataxia PRICKLE1-related progressive myoclonic epilepsy with ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  4. CSTB gene 
    ... B CST6 cystatin B (stefin B) EPM1 EPM1A PME stefin B STFB ULD Tests of CSTB PubMed ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  5. ASAH1 gene 
    ... spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition is characterized by muscle weakness and ... childhood. The ASAH1 gene variants that cause SMA-PME result in a reduction of acid ceramidase activity ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  6. Action myoclonus–renal failure syndrome 
    ... Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009 Oct;66( ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  7. TBC1D24 gene 
    ... infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in impairment of TBC1D24 ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  8. SCARB2 gene 
    ... Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009 Oct;66( ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  9. Farber lipogranulomatosis 
    ... JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20;13( ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  10. Myoclonus From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Movement Disorders/Specifics ... Movement Disorders ... Multiple Sclerosis/Related Issues ... Multiple Sclerosis ... National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/myoclonus - External Health Links
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