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Results 1 - 10 of 11 for Developmental epileptic "encephalopathy," 28
  1. ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
  2. ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
  3. ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
  4. ... of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or DEE85), appears to affect only females. Affected individuals develop severe, ... impairments. These individuals can also have distinctive facial ...
  5. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Seizures/Start Here ... Seizures ... Epilepsy/Start Here ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Epilepsy ...
  6. ... Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 2013 Oct 28;4:213. doi: 10.3389/fgene.2013.00213. ...
  7. ... 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, ...
  8. ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
  9. ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
  10. ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
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