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Results 1 - 3 of 3 for Developmental epileptic encephalopathy 94
  1. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  2. Pyridoxal phosphate-responsive seizures 
    ... of pyridoxine metabolism. Mol Genet Metab. 2008 Aug;94(4):431-434. doi: ... epileptic encephalopathy caused by mutations in the PNPO gene encoding ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  3. Pitt-Hopkins syndrome 
    ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics