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Results 1 - 10 of 18 for Developmental epileptic "encephalopathy," 14
  1. ... X-linked traits to their sons. DEE 14 Developmental and epileptic encephalopathy 14 Early infantile epileptic encephalopathy 14 EIEE14 EIMFS Epilepsy ...
  2. ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
  3. ... in the SCN2A gene are associated with SCN2A-developmental and epileptic encephalopathy. Developmental and epileptic encephalopathies (DEEs) are a group ...
  4. ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
  5. ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
  6. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
  7. ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ... PubMed Lehesjoki AE. Molecular background of progressive myoclonus ... early developmental delay, and severe dyskinesia. Neurology. 2016 Mar 1; ...
  8. Epilepsy (National Library of Medicine)  
    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out ...
  9. ... show signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, seizures, and developmental delay National Organization for Rare Disorders (NORD) MICROCEPHALY, ...
  10. ... encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct ...
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