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Results 1 - 10 of 17 for Progressive myoclonic epilepsy type 3
Did you mean Progressive mayoclinic epilepsy type 3?
  1. Progressive myoclonic epilepsy type 1 
    ... repeat. Normally, this sequence is repeated two or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. CSTB gene 
    ... repeat. Normally, this sequence is repeated two or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ...
    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 
    ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - 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 ... subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and ... integral membrane protein type 2 (LIMP-2) reveal the nature of binding ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  6. Familial encephalopathy with neuroserpin inclusion bodies 
    ... Lawrence DA. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. Thromb Haemost. 2004 Mar;91(3):457-64. doi: 10.1160/TH03-12-0766. Citation on PubMed
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  7. SCARB2 gene 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ... 692-703. doi: 10.1007/s13238-014-0087-3. Epub 2014 Jul 2. Citation on PubMed or Free ... myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009 Oct; ...
    https://medlineplus.gov/genetics/gene/scarb2 - Genetics
  8. Cerebral folate transport deficiency 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  9. 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
  10. MT-TS1 gene 
    The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
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