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Results 1 - 10 of 13 for Progressive myoclonic epilepsy type 7
Did you mean Progressive mayoclinic epilepsy type 7?
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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. ... J Biol Chem. 2008 Feb 15;283(7):4069-76. doi: 10.1074/jbc.M708712200. Epub ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  6. 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
  7. 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
  8. 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
  9. Beta-propeller protein-associated neurodegeneration 
    ... disorder that damages the nervous system and is progressive, which means that ... (epilepsy) beginning in infancy or early childhood. Several different ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  10. SERPINI1 gene 
    ... a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy) and delayed development. More About This Health Condition ... intermediate that rapidly forms polymers: implications for the epilepsy seen ... J Biochem. 2004 Aug;271(16):3360-7. doi: 10.1111/j.1432-1033.2004.04270. ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
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