Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Advance in the exome‐wide sequencing analysis contributes to identifying hundreds of genes that are associated with early‐onset epileptic encephalopathy and neurodevelopmental disorders. On the basis of massive sequencing data, functional interactions among different genes are suggested to explain t...

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Detalles Bibliográficos
Autores principales: Akamine, Satoshi, Sagata, Noriaki, Sakai, Yasunari, Kato, Takahiro A., Nakahara, Takeshi, Matsushita, Yuki, Togao, Osamu, Hiwatashi, Akio, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Hara, Toshiro, Sawa, Akira, Kano, Shinichi, Furue, Masutaka, Kanba, Shigenobu, Shaw, Chad A., Ohga, Shouichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839317/
https://www.ncbi.nlm.nih.gov/pubmed/29588991
http://dx.doi.org/10.1002/epi4.12085

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