| 概要 |
Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by variable degrees of developmental delay, intellectual disability, and seizures. Mutations in the NCDN gene, encoding neurochondrin which is an adaptor protein for G-coupled receptors, have been associated with this disorder.
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| 著者 |
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N |
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