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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 15
  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. ... syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms ...
    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. Microcephaly, seizures, and developmental delay 
    ... show signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, seizures, and developmental delay National Organization for Rare Disorders (NORD) MICROCEPHALY, ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  6. 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( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - 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/ ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  8. 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
  9. 5q31.3 microdeletion syndrome 
    ... microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. Epub 2011 Mar 15. Erratum In: Am J Med Genet A. 2011 ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics