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Results 1 - 7 of 7 for Developmental epileptic encephalopathy 93
  1. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  2. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. Pyridoxal phosphate-responsive seizures 
    ... Bartmann P, Franz AR. Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F151-2. doi: 10.1136/adc.2006. ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  4. Pitt-Hopkins syndrome 
    ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  5. 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
  6. Lennox-Gastaut syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov ... diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009 Jan;8(1):82-93. doi: 10.1016/S1474-4422(08)70292-8. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  7. GABA-transaminase deficiency 
    GABA-transaminase deficiency is a ... excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics