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Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain mal...

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Detalles Bibliográficos
Autores principales: Arafat, Ahmed, Jing, Peng, Ma, Yuping, Pu, Miao, Nan, Gai, Fang, He, Chen, Chen, Fei, Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384237/
https://www.ncbi.nlm.nih.gov/pubmed/28387369
http://dx.doi.org/10.1038/srep46227