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 - 7 of 7 for Developmental epileptic "encephalopathy," 86
  1. 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
  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. KCNB1 encephalopathy 
    ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  4. 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
  5. 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 ...
    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. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  7. Asparagine synthetase deficiency 
    ... developmental milestones often lose these skills over time (developmental ... seizures (epilepsy). Not all affected people experience the same type ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics