GNAO1 is one of the key signaling proteins in the central nervous system. When the corresponding gene is mutated in an inborn genetic disease, two different groups of symptoms may occur: epilepsy or involuntary movements, sometimes appearing in the same patient. Even the symptoms from the same group sometimes respond to drugs having the opposite pharmacological effect. This pipeline recaps the data collection process and provides model that helps rationalize this puzzling knot of disease outcomes.
The draft of the paper can be found on BioRxiv.