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 ...

Dup15q is associated with genomic copy number variations that result in increased levels of the UBE3A gene product. Dup15q syndrome is clinically related to Angelman syndrome (AS), a distinct ...

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.

Angelman syndrome is caused by several genetic mutations, but the most significant is loss of function in the maternally inherited form of the UBE3A gene, which leads to complications in the ...