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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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Zhong, Min, Liao, Shuang, Li, Tingsong, Wu, Peng, Wang, Yanqin, Wu, Fangrui, Li, Xiujuan, Hong, Siqi, Yan, Lisi, Jiang, Li
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2019
Assuntos:
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017979/
https://ncbi.nlm.nih.gov/pubmed/31689829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000017749
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