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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 52
  1. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... Redox Signal. 2014 Aug 20;21(6):933-52. doi: 10.1089/ars.2013.5614. Epub 2013 Oct ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  2. Lennox-Gastaut syndrome 
    ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  3. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... TB. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  4. GABA-transaminase deficiency 
    GABA-transaminase deficiency is a ... excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  5. GLUT1 deficiency syndrome 
    ... than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics