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Results 1 - 10 of 10 for Developmental epileptic "encephalopathy," 12
  1. CHD2 myoclonic encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02.005. Epub 2014 Mar 12. Citation on PubMed Suls A, Jaehn JA, Kecskes ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  2. 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
  3. 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
  4. Lennox-Gastaut syndrome 
    ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. ... j.yebeh.2014.02.005. Epub 2014 Mar 12. Citation on PubMed ... the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar; ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  5. Pyridoxine-dependent epilepsy 
    ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  6. 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
  7. Genetic epilepsy with febrile seizures plus 
    ... STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  8. GLUT1 deficiency syndrome 
    ... than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  9. 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
  10. PURA syndrome 
    ... for fewer than 1 percent of cases of developmental delay. PURA syndrome is caused by mutations in ... and impair the function of neurons, leading to developmental problems and seizures in people with the condition. ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics