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Results 21 - 30 of 30 for Developmental epileptic "encephalopathy," 1
  1. 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. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  2. 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
  3. Curing the Epilepsies: The Promise of Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Statistics and Research ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Request free mailed ...
    https://www.ninds.nih.gov/.../curing-epilepsies-promise-research - External Health Links
  4. Genetic epilepsy with febrile seizures plus 
    ... AL Jr, Koeleman BP, Rook MB. Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Eur ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  5. PURA syndrome 
    ... These breathing problems usually go away after age 1.Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually ... It is estimated to account for fewer than 1 percent of cases of developmental delay. PURA syndrome is caused by mutations in ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  6. Mitochondrial complex I deficiency 
    ... have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  7. GLUT1 deficiency syndrome 
    ... M. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/ ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  8. PURA gene 
    ... mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Citation ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  9. 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
  10. 5q31.3 microdeletion syndrome 
    ... microdeletion syndrome of 5q31.3 characterized by severe developmental delays, ... and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc. ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
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