This website provides information on individuals with variants in the TRAPPC4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the TRAPPC4 gene is a multisystem disorder characterized by Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA; OMIM 618741).
Not all individuals with a variant in the TRAPPC4 gene have these clinical features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with variants in the TRAPPC4 gene.

Nicole Van Bergen, BSc, PhD, Murdoch Children’s Research Institute, Parkville, VIC, Australia, Nicole.vanbergen@mcri.edu.au

John Christodoulou, AM MBBS, PhD, Murdoch Children’s Research Institute, Parkville, VIC, Australia, john.christodoulou@mcri.edu.au