This website provides information on individuals with mutations in the IRF2BPL gene, including clinical data, molecular data, management, and research options.
Neurodevelopmental disorder with regression, abnormal movements loss of speech and seizures (NEDAMSS; OMIM#618088) caused by truncating mutations in the IRF2BPL gene is a multisystem disorder characterized by neurodevelopmental regression in childhood following typical development, movement disorder, seizures and abnormal eye movements.
Not all individuals with variants in the IRF2BPL gene have these features. Unlike individuals with protein truncating variants, those with missense variants lack the neurological regression and may have seizures, developmental delay, and features of autism spectrum disorder.
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 mutations in the IRF2BPL gene.
Loren Pena, MD, PhD, University of Cincinnati, Cincinnati, OH, United States, Loren.Pena@cchmc.org
Vandana Shashi, MD, Duke University, Durham, NC, United States, Vandana.firstname.lastname@example.org
Becky Spillmann, MS, CGC, Duke University, Durham, NC, United States, Rebecca.email@example.com
Paul C. Marcogliese, PhD, Baylor College of Medicine, Houston, TX, United States, firstname.lastname@example.org
Hugo Bellen, DVM, PhD, Baylor College of Medicine, Houston, TX, United States, email@example.com