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Results 1 - 5 of 5 for Developmental epileptic "encephalopathy," 21
  1. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. 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
  3. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... potassium channels. Antioxid Redox Signal. 2014 Aug 20;21(6):933-52. doi: ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  4. SCN8A gene 
    ... Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3. ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  5. PURA gene 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 ... delays, distinctive facial features, and delayed myelination. Am ...
    https://medlineplus.gov/genetics/gene/pura - Genetics