New paper in Brain from the Cousin lab
A case series - SYT1-associated neurodevelopmental disorder
The paper reports a case series of patients with mutations in the gene encoding the essential calcium trigger for neurotransmitter release – SYT1. All SYT1 mutations clustered in the calcium-binding C2B domain and retarded neurotransmitter release in vitro. Normal function was restored by increasing extracellular calcium, suggesting methods to enhance calcium influx may be a viable therapeutic avenue.
Our lab is very proud to be part of this important work. Huge credit goes to the labs of both Kate Baker (University of Cambridge) and Sarah Gordon (Florey Institute, Melbourne) for driving this project to fruition.
A link to the paper is below - https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awy209/5072007