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Results 1 - 10 of 19 for Progressive myoclonic epilepsy type 5
Did you mean Progressive mayoclinic epilepsy type 5?
  1. Progressive myoclonic epilepsy type 1 
    ... impairs the gene's function.In individuals with progressive myoclonic epilepsy type 1, levels of cystatin B are only 5 to 10 percent of normal. This change is ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. CSTB gene 
    ... of cystatin B in affected individuals are only 5 to 10 percent of normal. This change is believed to cause the signs and symptoms of progressive myoclonic epilepsy type 1, but the specific mechanism is unknown. More ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. Lafora progressive myoclonus epilepsy 
    ... type progressive myoclonic epilepsy Myoclonic epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type Genetic Testing ...
    https://medlineplus.gov/.../lafora-progressive-myoclonus-epilepsy - Genetics
  4. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... H, Melki J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05. ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  5. 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
  6. Cerebral folate transport deficiency 
    ... and etiologic aspects. Arch Neurol. 2011 May;68(5):615-21. doi: ... ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  7. NHLRC1 gene 
    ... and NHLRC1 genes. Hum Mutat. 2009 May;30(5):715-23. doi: 10.1002/humu.20954. ... with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  8. 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
  9. SCARB2 gene 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ... and uncoating of EV71. Protein Cell. 2014 Sep;5(9):692-703. doi: ... myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009 Oct; ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  10. CLN8 disease 
    ... variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 Progressive epilepsy-intellectual disability syndrome, Finnish type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
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