SNAREopathies in epilepsies and neurodevelopmental disorders 

SNARE complex. This is the first post in our series on SNAREopathies – an umbrella term for diseases caused by variants in the soluble NSF attachment protein receptor (SNARE) complex, that is essential for neuronal synaptic vesicle exocytosis in the presynapse. The core SNARE complex comprises a four-helix bundle consisting of two SNAP25 helices, which is encoded by SNAP25, the syntaxin 1 helix encoded by STX1A/STX1B, and the synaptobrevin 2 helix encoded by VAMP2. The complex is regulated by different proteins including MUNC18 encoded by STXBP1, MUNC13 encoded by UNC13A, and synaptotagmin encoded by SYT1 and complexins. Here is an overview of SNAREopathies, with a focus in this post on SNAP25 and VAMP2. 

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