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Results 1 - 3 of 3 for Developmental epileptic "encephalopathy," 26
  1. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... 10.1089/ars.2013.5614. Epub 2013 Oct 26. Citation on PubMed ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  2. KCNT1 gene 
    ... have also been associated with a type of developmental and epileptic encephalopathy (DEE). DEEs are a group of epileptic disorders that are characterized by developmental delays and abnormal brain function (encephalopathy) that worsens over time. Affected individuals often have ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
  3. 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