Research collaboration

Ongoing research includes a collection of individuals with the (likely) diagnosis of CCDC186 associated developmental and epileptic encephalopathy (DEE) to understand the natural course of the disease. Further ongoing research aims to understand the abnormalities in vesicular sorting upon disruption of CCDC186. Preliminary results showed an accumulation of vesicular structures as a possible correlate to the defective formation of secretory vesicles in patient derived material.