Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder​

In Brief

Bradberry et al. combine clinical, physiological, and biochemical approaches to define how mutations in the Ca2+ sensor synaptotagmin-1 lead to a severe neurodevelopmental disorder. Their studies define new mechanistic aspects of synaptotagmin-1’s function and reveal that a clinically approved drug may have a role in the treatment of this disorder.