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Results 1 - 10 of 11 for Progressive myoclonic epilepsy
Did you mean Progressive mayoclinic epilepsy?
  1. CSTB gene 
    ... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  2. 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
  3. 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
  4. NHLRC1 gene 
    ... genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. ...
    https://medlineplus.gov/genetics/gene/nhlrc1 - Genetics
  5. 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
  6. TBC1D24 gene 
    ... people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  7. MT-TS1 gene 
    ... in a few people with variant forms of myoclonic epilepsy with ragged-red fibers (MERRF). In these cases, ... M, Muller-Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  8. SERPINI1 gene 
    ... a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy) and delayed development. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
  9. POLG gene 
    ... POLG gene cause another POLG-related disorder called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  10. MT-TL1 gene 
    ... found in a few people with features of myoclonic epilepsy with ragged-red fibers (MERRF). These individuals also ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
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