Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature

Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature

Abstract Background Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical manifestations and other symptoms that may be easil...

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Bibliographic Details
Main Authors: Lifen Duan, Lei Ye, Runxiu Yin, Ying Sun, Wei Yu, Yi Zhang, Haiyan Zhong, Xinhua Bao, Xin Tian
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Pediatrics
Subjects:
CAD gene
Mutation
DEE-50
Uridine
Epilepticus
Online Access:https://doi.org/10.1186/s12887-024-04593-6

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