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Results 1 - 10 of 10 for Developmental epileptic "encephalopathy," 21
  1. KCNB1 encephalopathy 
    ... Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Citation on PubMed de Kovel CGF, Syrbe S, ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. 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.2014.02.005. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  3. SCN8A-related epilepsy with encephalopathy 
    ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 Developmental and epileptic encephalopathy 13 National Organization ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  4. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  5. 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
  6. 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
  7. Lennox-Gastaut syndrome 
    ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  8. Genetic epilepsy with febrile seizures plus 
    ... voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci. 2001 Oct 1;21(19):7481-90. doi: 10.1523/JNEUROSCI.21- ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  9. 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
  10. 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