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Results 1 - 10 of 23 for Progressive myoclonic epilepsy type 6
  1. ... and symptoms of the disorder typically begin between 6 and 15 years of age. People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or ...
  2. ... epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type ... Andrade DM, Turnbull J, Minassian BA. Lafora disease, seizures and sugars. Acta Myol. 2007 Jul;26(1):83-6. Citation on PubMed or Free article on PubMed ...
  3. ... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. One ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ...
  4. ... and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub ...
  5. ... 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. ...
  6. ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis. 2010 Dec;33(6):795-802. doi: 10.1007/s10545-010-9196- ...
  7. Movement Disorders (National Library of Medicine)  
    Movement disorders are neurologic conditions that cause problems with movement, such as: Increased movement that can be voluntary (intentional) or involuntary ( ...
  8. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy is a chronic brain disorder in which groups of nerve cells, or neurons, in the brain sometimes send the wrong signals and cause seizures. Epilepsy ( ...
  9. ... 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 (PME) ... Oct;66(4):532-6. doi: 10.1002/ana.21765. Citation on PubMed ...
  10. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized ...
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