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Results 1 - 5 of 5 for Early infantile epileptic encephalopathy 2
  1. ... syndromes, including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is ...
  2. ... been identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
  3. ... Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2. Citation on PubMed Wagnon JL, Barker BS, Hounshell ...
  4. ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. ... ataxia type 2 mutations involve disruption of membrane trafficking of human ...
  5. ... Suomalainen A, Lonnqvist T. Recessive Twinkle mutations in early onset ... mosaicism. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01.WNL.0000149767. ...