A Treatable Genetic Disease Caused by CAD Mutation

• Main Authors: Xia Peng (Author), Li-ping Xia (Author), Hai-ju Zhang (Author), Jing Zhang (Author), Shi-qian Yu (Author), Shun Wang (Author), Yu-ming Xu (Author), Baozhen Yao (Author), Jingping Ye (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome...