Article
Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.
Medicine - 1 Nov 2019
Zhong Min, Liao Shuang, Li Tingsong, Wu Peng, Wang Yanqin, Wu Fangrui, Li Xiujuan, Hong Siqi, Yan Lisi, Jiang Li
Abstract excerpt
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 reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.