Creating a phenotypic catalogue of synaptic vesicle cycling disorders

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Developmental disorders affect 2-5% of children. In order to understand how these mutations will likely affect neurological function in these individuals, and to develop a tailored care and treatment program, we must first understand how these mutations affect neuronal communication. This research program will identify the underlying cause of neurological dysfunction in a subset of these disorders (synaptic vesicle cycle disorders), affecting 1200-3000 children in Australia alone.