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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 32
  1. CHD2 myoclonic encephalopathy 
    ... individuals can have a loss of acquired skills (developmental regression) following the onset of epilepsy. ... literature. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  2. 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
  3. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  4. Genetic epilepsy with febrile seizures plus 
    ... STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  5. PURA syndrome 
    ... mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics