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Results 11 - 17 of 17 for Developmental epileptic "encephalopathy," 3
  1. 5q31.3 microdeletion syndrome 
    ... Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  2. Genetic epilepsy with febrile seizures plus 
    ... with febrile seizures plus Genetic Testing Registry: Generalized epilepsy with febrile seizures plus 3 Genetic Testing Registry: Generalized epilepsy with febrile seizures ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  3. 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
  4. PURA syndrome 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov ... mutations in PURA are associated with hypotonia and developmental delay. Cold ... and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3. ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  5. GLUT1 deficiency syndrome 
    ... Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres.2011. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  6. 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
  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
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