Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorder
Paul Yangho Park, Lauren E. Bleakley, Nadia Saraya, Reem Al‐Jawahiri, Josefine Eck, Marc Anthony Aloi, Holly Melland, Kate Baker, Sarah L. Gordon
The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.
bioRxiv · Nov 25, 2023 · PreprintNeuroscience