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Results 1 - 7 of 7 for Developmental epileptic "encephalopathy," 27
  1. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  2. KCNB1 encephalopathy 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  3. Lennox-Gastaut syndrome 
    ... De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia. 2016 Jan;57(1):e18-23. doi: 10.1111/epi.13257. Epub 2015 Nov 27. Citation on PubMed Nelson JA, Demarest S, Thomas ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - 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. Mitochondrial complex I deficiency 
    ... have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  6. GABA-transaminase deficiency 
    GABA-transaminase deficiency is a ... excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  7. 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