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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 18
  1. CHD2 myoclonic encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94 PubMed Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK. CHD2 mutations in Lennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  2. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. Malignant migrating partial seizures of infancy 
    ... partial seizures of infancy MMPSI Genetic Testing Registry: Developmental and epileptic encephalopathy, 14 Malignant migrating focal seizures of infancy National ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  4. Pyridoxine-dependent epilepsy 
    ... 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, ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  5. Lennox-Gastaut syndrome 
    ... Lennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02.005. Epub 2014 Mar 12. Citation on PubMed McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar; ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  6. GLUT1 deficiency syndrome 
    ... spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  7. 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
  8. Genetic epilepsy with febrile seizures plus 
    ... 10.1371/journal.pgen.1000649. Epub 2009 Sep 18. Citation on PubMed or Free article on PubMed Central Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci. ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  9. 5q31.3 microdeletion syndrome 
    ... 10.1002/ajmg.a.35439. Epub 2012 Jun 18. Citation on PubMed Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, 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