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Results 1 - 10 of 19 for "Epilepsy," progressive "myoclonic," 12
Did you mean "Epilepsy," progressive "mayoclinic," 12?
  1. CSTB gene 
    ... the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. Cytogenet Genome Res. 2003;100(1-4):213-23. doi: 10.1159/000072857. Citation on PubMed Lehesjoki AE, Kalviainen R. Progressive Myoclonic Epilepsy Type 1. 2004 Jun 24 [updated 2020 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  2. Progressive myoclonic epilepsy type 1 
    ... the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. Cytogenet Genome Res. 2003;100(1-4):213-23. doi: 10.1159/000072857. Citation on PubMed Lehesjoki AE, Kalviainen R. Progressive Myoclonic Epilepsy Type 1. 2004 Jun 24 [updated 2020 ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  3. Lafora progressive myoclonus epilepsy 
    ... not show signs and symptoms of the condition. Epilepsy, progressive 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. 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
  5. 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
  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. 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
  8. 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 ... doi: 10.1016/j.ymgme.2013.12.005. Epub 2013 Dec 11. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  9. Spinal muscular atrophy 
    ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X- ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - 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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