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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 46
  1. 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
  2. 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
  3. 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
  4. Genetic epilepsy with febrile seizures plus 
    ... STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  5. 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