SYT1. To continue our series on SNAREopathies—developmental disorders caused by genes encoding proteins involved in the SNARE complex—we next provide a brief overview of SYT1-related disorders. The gene SYT1 encodes synaptotagmin-1 (SYT1), which belongs to the group of synaptotagmin proteins that are essential for neurotransmission. Disease-causing mutations in SYT1 have a spectrum of clinical presentations ranging in severity and phenotypic complexity but also with certain unifying features, making SYT1-related disorders a complex neurodevelopmental SNAREopathy.
Tag Archives: SNAREopathies
Expanding the spectrum of SNAREopathies – STX1A in epilepsy and neurodevelopmental disorders
SNAREopathies. This post continues the series on SNAREopathies, a group of neurodevelopmental conditions caused by variants in genes encoding components that form the SNARE complex and regulatory proteins. As previously described, the SNARE complex is the molecular machinery driving synaptic vesicle release in the presynapse, which enables communication between neurons. Here, we expand the discussion to the second t-SNARE protein of the SNARE core complex, STX1A, and provide a brief review of the recent paper implicating STX1A in epilepsy and neurodevelopmental disorders.
