This syndrome is caused by a change in the GABBR2 gene. A genetic change in the GABBR2 gene (also called a mutation or a pathogenic variant) has been linked to epilepsy (including severe form of epilepsy and developmental delays) and Rett-like syndrome. In Rett syndrome, children may have different symptoms and signs, such as developmental regression followed by stagnation, unusual hand movements, small head , autonomic dysfunction(agitation, constipation, reflux, arrhythmia, breath holding or heavy breathing), and sleep disturbances.
In the reported cases, this gene variant is not inherited, but occurs as a new change during the making of the egg or the sperm.
The diagnosis is based on the symptoms and may be confirmed by the genetic testing.
As of 2021, only a few cases have been reported.
Treatment for this syndrome is focused on managing the symptoms, such as epilepsy or developmental delays.
GABBR2