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Results 1 - 4 of 4 for Developmental epileptic "encephalopathy," 41
  1. KCNB1 encephalopathy 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. Lennox-Gastaut syndrome 
    ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  4. Asparagine synthetase deficiency 
    ... causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics