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IRF2BPL-related disorders, also known as NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures), are a spectrum of neurodevelopmental disorders caused by pathogenic variants in the IRF2BPL gene. IRF2BPL has only recently been implicated in this condition and appears to be very rare, so little is known about how it presents in patients and how it develops over time. The presence and severity of the signs and symptoms of IRF2BPL-related disorders can be variable. They may include progressive neurodevelopmental regression, brain abnormalities seen on magnetic resonance imaging (MRI), movement abnormalities, seizures and low muscle tone. Management is aimed at treating and alleviating signs and symptoms such as seizures and improving quality of life.
The latest on our research
We are jumpstarting our IRF2BPL-related disorders program to accelerate research on the disorder to ultimately improve treatment options. We welcome all parents and caregivers interested in participating and spreading the word to the IRF2BPL community.