Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review

RATIONALE: Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor. PATIENT CONCERNS: In this study, we re...

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Detalles Bibliográficos
Autores principales: Zhong, Min, Liao, Shuang, Li, Tingsong, Wu, Peng, Wang, Yanqin, Wu, Fangrui, Li, Xiujuan, Hong, Siqi, Yan, Lisi, Jiang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017979/
https://www.ncbi.nlm.nih.gov/pubmed/31689829
http://dx.doi.org/10.1097/MD.0000000000017749

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