Clinical features of SYT1-associated neurodevelopmental disorder correlate with functional defects in evoked neurotransmitter release
Lauren Bleakley, Paul Park, Nadia Saraya, Reem Al-Jawahiri, Josefine Eck, Marc Aloi, Holly Melland, Kate Baker, Sarah Gordon · FENS Forum 2024
Synaptotagmin-1 (SYT1) is a presynaptic vesicular protein which plays a crucial role in triggering synchronous neurotransmitter release. It is comprised of two key domains: the C2B domain, which requisitely binds intracellular calcium to facilitate vesicular fusion; and the C2A domain, which plays an auxiliary role in evoked exocytosis. Pathogenic C2B domain variants cause SYT1-associated neurodevelopmental disorder, a rare condition characterised by movement disorder, developmental delay and intellectual disability. Recently, a number of new pathogenic SYT1 variants have been identified. Thes
ePoster · Neuroscience