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," 9
  1. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. ARX gene 
    ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  3. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - 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. SMC1A gene 
    ... of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or DEE85), appears to affect only females. Affected individuals develop severe, ... impairments. These individuals can also have distinctive facial ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  6. GRIN2A gene 
    ... in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  7. SLC35A2 gene 
    ... N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ... encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics