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Results 1 - 10 of 18 for Developmental epileptic "encephalopathy," 14
  1. 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 Organization ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  2. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. ARX gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. 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
  5. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  6. CSTB gene 
    ... 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; ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  7. 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 ...
    https://medlineplus.gov/epilepsy.html - Health Topics
  8. Microcephaly, seizures, and developmental delay 
    ... 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, ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  9. SLC35A2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  10. GRIN2A gene 
    ... of speech and language skills and sometimes other developmental skills; and in many cases, recurrent seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
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