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Results 1 - 10 of 28 for Progressive myoclonic epilepsy
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  1. Progressive myoclonic epilepsy type 1 
    Progressive myoclonic epilepsy type 1 (also called Unverricht-Lundborg disease or ULD) is a rare inherited form of epilepsy. Early development is normal in affected ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. 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
  3. Lafora progressive myoclonus epilepsy 
    ... myoclonic, Lafora Lafora body disease Lafora disease Lafora progressive myoclonic epilepsy Lafora type progressive myoclonic epilepsy Myoclonic epilepsy of ...
    https://medlineplus.gov/.../lafora-progressive-myoclonus-epilepsy - Genetics
  4. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... their family. EPM1B PME with ataxia PRICKLE1-related progressive myoclonic epilepsy with ataxia Progressive myoclonic epilepsy 1B Progressive myoclonus ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  5. Action myoclonus–renal failure syndrome 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  6. Familial encephalopathy with neuroserpin inclusion bodies 
    Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized ...
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  7. CSTB gene 
    ... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  8. ASAH1 gene 
    ... been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition is characterized by muscle ... and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec;86(6):558-63. ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  9. SCARB2 gene 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  10. Farber lipogranulomatosis 
    ... deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
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