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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 26
  1. ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization for ...
  2. ... year of life. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. Citation on PubMed
  3. ... show signs and symptoms of the condition. EIEE10 Epileptic ... Mech Ageing Dev. 2017 Jan;161(Pt A):121-129. doi: 10.1016/j.mad.2016.04.009. Epub 2016 Apr 26. Citation on PubMed or Free article on PubMed ...
  4. ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... 10.1089/ars.2013.5614. Epub 2013 Oct 26. Citation on PubMed ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
  5. ... mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub 2018 Jan 26. Citation on PubMed
  6. ... 10.1136/jmg.2008.060129. Epub 2008 Aug 26. Citation on PubMed
  7. ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
  8. ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
  9. ... and some affected children lose already-acquired skills (developmental ... seizures and epilepsy. For example, one affected family member may have ...