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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 86
  1. STXBP1 encephalopathy 
    ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. KCNB1 encephalopathy 
    ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  3. Pyridoxal phosphate-responsive seizures 
    ... I, Hoffmann GF, Zschocke J, Clayton PT. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet. 2005 Apr 15;14(8):1077-86. doi: 10.1093/hmg/ddi120. Epub 2005 Mar ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  4. 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
  5. Asparagine synthetase deficiency 
    ... developmental milestones often lose these skills over time (developmental ... seizures (epilepsy). Not all affected people experience the same type ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics