This website provides information on patients with mutations in the NAXE gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the NAXE gene is a multisystem disorder characterized by early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy, called PEBEL1.
Not all individuals with a mutation in the NAXE gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge about and provide better treatment to patients with mutations in the NAXE gene.

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

Prof. John Christodoulou, AM MB BS PhD FRACP FFSc(RCPA) FRCPA FAHMS, Murdoch Children’s Research Institute, Parkville, VIC, Australia, john.christodoulou@mcri.edu.au

Prof. Carole Linster, BSc, PhD, University of Luxembourg, Esch-sur-Alzette, Luxembourg, carole.linster@uni.lu