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Results 1 - 3 of 3 for Developmental epileptic "encephalopathy," 83
  1. PURA gene 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 ... delays, distinctive facial features, and delayed myelination. Am ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  2. TWNK gene 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. PURA syndrome 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics