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Early infantile epileptic encephalopathy 2
- ... syndromes, including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is ...
- ... been identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
- ... 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 ...
- ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. ... ataxia type 2 mutations involve disruption of membrane trafficking of human ...
- ... 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. ...