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Results 1 - 10 of 14 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. The spasms usually appear before ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  2. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. 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
  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. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  6. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  7. 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
  8. Landau-Kleffner Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Aphasia/Children ... Aphasia ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about Landau- ...
    https://rarediseases.info.nih.gov/.../6855/landau-kleffner-syndrome - External Health Links
  9. SCN8A gene 
    ... Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb. ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  10. 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
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