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Results 1 - 10 of 17 for "Epilepsy," progressive "myoclonic," 11
Did you mean "Epilepsy," progressive "mayoclinic," 11?
  1. CSTB gene 
    ... the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. Glia. 2015 Mar;63(3):400-11. doi: 10.1002/glia.22760. Epub 2014 Oct 18. Citation on PubMed Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  2. 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
  3. Action myoclonus–renal failure syndrome 
    ... failure syndrome Action myoclonus–renal failure syndrome AMRF Epilepsy, progressive myoclonic 4, with or without renal failure EPM4 Familial ... failure syndrome National Organization for Rare Disorders (NORD) EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 PubMed ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  4. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... Progressive myoclonus epilepsy with ataxia Genetic Testing Registry: Epilepsy, progressive myoclonic, 1B National Organization for Rare Disorders (NORD) EPILEPSY, ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  5. 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
  6. NHLRC1 gene 
    ... genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. ... glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Nat Neurosci. 2007 Nov;10(11):1407-13. doi: 10.1038/nn1998. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  7. SCARB2 gene 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ... E, Lehesjoki AE, Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy (PME) ... Epub 2013 Dec 11. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  8. FOLR1 gene 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  9. Myoclonic epilepsy with ragged-red fibers 
    ... new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy ... mitochondrial myopathy, deafness, and sporadic seizures associated with ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  10. CLN8 disease 
    ... variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 ... function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013. ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
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