Neurodevelopmental Disorder Linked to Partial BRSK1 Loss
Summary: Researchers using the artificial intelligence tool AI-MARRVEL together with functional fruit fly models have identified rare variants in the BRSK1 gene as the cause of a previously undiagnosed neurodevelopmental disorder. The study shows that reduced BRSK1 function disrupts microtubule organization and alters synaptic structure, producing developmental delays, speech and language deficits, autism traits, and … Read more