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

The syndrome caused by disease causing variants in the NEXMIF gene is primarily a neurodevelopmental disorder characterized by developmental delay/intellectual disability (ID), with (generalized) epilepsy in the majority of patients and an increased risk for autism and behavioral problems. Additional features are hypotonia, gastrointestinal problems, growth retardation during childhood and overweight/obesity in adulthood.

Not all individuals with a mutation in the NEXMIF gene have these 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 patients with disease causing variants in the NEXMIF gene.

Hannah Stamberger, Department of Neurology, Antwerp University Hospital; and Applied and Translational Neurogenomics group, CMN-VIB, University of Antwerp, Belgium, hannah.stamberger@uantwerpen.be

Trine Bjørg Hammer, Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund and Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark, genetics@filadelfia.dk

Rikke S. Møller, Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Dianalund and Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark, rimo@filadelfia.dk

Ingrid E. Scheffer, Departments of Medicine and Paediatrics, University of Melbourne, Austin Health and Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, VIC, Australia, i.scheffer@unimelb.edu.au