你是否见过这样的孩子？他们拥有天真烂漫的笑容，纯洁如天使，被唤作“微笑天使”。 然而，笑容背后却往往伴随错乱言语和僵硬颤抖的步伐，如同被操控的“快乐木偶”，空洞微笑摇摆。这并非真快乐，而是一种罕见病——天使综合征（Angelman Syndrome, AS）的残酷伪装。

Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.

The disorder principally affects the central nervous system, meaning the brain and spinal cord, and it's caused by mutations in the UBE3A gene. This gene carries instructions for a protein needed ...

According to experts, it is caused by a loss of function in the UBE3A gene - usually only active from the mother. When the maternal copy of the gene is missing or damaged, the brain is not able to ...