Holly Melland

The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.

This study investigates how SYT1 variants affect synaptic vesicle exocytosis and clarifies that defective evoked exocytosis is the main pathogenic mechanism of SYT1-associated neurodevelopmental disorders.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

This study shows that postsynaptic neuroligin-1 influences presynaptic endocytosis during neuronal activity without affecting vesicle pools or exocytosis.