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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 17
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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