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Results 1 - 10 of 22 for Epileptic encephalopathy
  1. KCNQ2 gene 
    ... KCNQ2 gene are also involved in early-onset epileptic encephalopathy, a more severe condition than BFNS (described above) ... that KCNQ2 gene mutations that cause early-onset epileptic encephalopathy lead to production of an abnormal KCNQ2 protein ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  2. CACNA1A gene 
    ... can also cause a form of developmental and epileptic encephalopathy, which is a group of conditions characterized by ... epilepsy) and developmental delays. People with developmental and epileptic encephalopathy caused by CACNA1A gene variants often experience intellectual ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. SCN8A gene 
    ... Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 2013 Oct 28; ... Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  4. ARX gene 
    ... in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  5. KCNB1 gene 
    ... phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... Jr, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  6. STXBP1 gene 
    ... of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016 Mar;38(3):280-4. ... in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: ...
    https://medlineplus.gov/genetics/gene/stxbp1 - 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
  8. GRIN2A gene 
    ... recurrent seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ... in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  9. CHD2 gene 
    ... mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum ...
    https://medlineplus.gov/genetics/gene/chd2 - Genetics
  10. CACNA1C gene 
    ... in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet A. 2018 Dec;176( ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
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