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Results 1 - 10 of 17 for Progressive myoclonic epilepsy type 9
Did you mean Progressive mayoclinic epilepsy type 9?
  1. 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
  2. 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
  3. CSTB gene 
    ... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. One ... times (called a repeat expansion). Most people with progressive myoclonic epilepsy type 1 have two copies of this variant. A ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  4. NHLRC1 gene 
    ... genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. doi: 10.1136/jmg.2005.039479. Citation ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  5. 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
  6. 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
  7. 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
  8. SCARB2 gene 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ... 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
  9. 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
  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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