Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report

• Main Authors: Wen-Cong Ruan (Author), Jia Wang (Author), Yong-Lin Yu (Author), Yue-Ping Che (Author), Li Ding (Author), Chen-Xi Li (Author), Xiao-Dong Wang (Author), Hai-Feng Li (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Introduction The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). Case presentation Here we p...