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Results 1 - 10 of 16 for Progressive myoclonic epilepsy
  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 ...
  2. Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that begins in childhood. SMA-PME causes muscle weakness and wasting (atrophy) and a ...
  3. ... myoclonic, Lafora Lafora body disease Lafora disease Lafora progressive myoclonic epilepsy Lafora type progressive myoclonic epilepsy Myoclonic epilepsy of ...
  4. ... their family. EPM1B PME with ataxia PRICKLE1-related progressive myoclonic epilepsy with ataxia Progressive myoclonic epilepsy 1B Progressive myoclonus ...
  5. ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ...
  6. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized ...
  7. ... deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. ...
  8. ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X- ...
  9. ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
  10. ... new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy ... mitochondrial myopathy, deafness, and sporadic seizures associated with ...
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