Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 12 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 West syndrome ...
    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 SCN8A encephalopathy Disease InfoSearch National Organization for ...
    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 Disease ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  5. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  6. 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
  7. 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
  8. Pyridoxal 5'-phosphate-dependent epilepsy 
    ... 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-5-phosphate-dependent-epilepsy - Genetics
  9. 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
  10. TWNK gene 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
previous · 1 · 2 · next