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Results 1 - 10 of 11 for Developmental epileptic "encephalopathy," 16
  1. Developmental and epileptic encephalopathy 1 
    Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - 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. Epilepsy-aphasia spectrum 
    ... family. Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep Epilepsy with ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  4. 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
  5. Lennox-Gastaut syndrome 
    ... MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  6. 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
  7. 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 16. Citation on PubMed Plecko B, Mills P. PNPO ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  8. Pitt-Hopkins syndrome 
    ... Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. Citation on PubMed
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  9. Asparagine synthetase deficiency 
    ... causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  10. 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
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