A Treatable Genetic Disease Caused by CAD Mutation

• Principais autores: Xia Peng (Autor), Li-ping Xia (Autor), Hai-ju Zhang (Autor), Jing Zhang (Autor), Shi-qian Yu (Autor), Shun Wang (Autor), Yu-ming Xu (Autor), Baozhen Yao (Autor), Jingping Ye (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...