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Results 1 - 7 of 7 for Developmental epileptic "encephalopathy," 23
  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. SCN8A-related epilepsy with encephalopathy 
    ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 Developmental and epileptic encephalopathy 13 National Organization ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-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 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  5. Pyridoxal phosphate-responsive seizures 
    ... 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. Citation on PubMed Khayat M, Korman SH, Frankel ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  6. Pitt-Hopkins syndrome 
    ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  7. 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