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Results 1 - 3 of 3 for Early infantile epileptic encephalopathy 14
  1. ARX gene 
    ... syndromes, including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  2. TWNK gene 
    ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset ... in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. CACNA1A gene 
    ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. ... 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