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Results 1 - 10 of 11 for Developmental epileptic "encephalopathy," 17
  1. SCN8A-related epilepsy with encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11. ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  2. STXBP1 encephalopathy 
    ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  3. SMC1A gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  4. Lennox-Gastaut syndrome 
    ... mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-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. SCN8A gene 
    ... problems, and the other features of SCN8A-related epilepsy with encephalopathy. Because some affected children experience the loss of previously acquired skills (developmental regression) after the onset of seizures, it has ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  7. SLC35A2 gene 
    ... 1007/s10545-015-9828-6. Epub 2015 Mar 17. Citation on PubMed ... epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  8. TWNK gene 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - 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. Curing the Epilepsies: The Promise of Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Statistics and Research ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Curing the Epilepsies: ...
    https://www.ninds.nih.gov/.../curing-epilepsies-promise-research - External Health Links
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