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CSTB function and progressive myoclonus epilepsy

Mutations of the cstb gene, cause EPM1, a neurodegenerative disease exclusive of the CNS. We have proposed the existence of a multi-protein complex including CSTB, with a specific CNS role. We have evidence suggesting multiple functions of CSTB depending on the protein partner. The CNS multiprotein complexes containing CSTB are involved in neuronal development, neurite outgrowth and neuronal vesicle traffic.