Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy

BRSK1 is required for neural development, but its role in human disease is poorly understood. We report 10 individuals with seven BRSK1 variants who exhibit neurodevelopmental delay, sometimes accompanied by autism, epilepsy, and other phenotypes. Modeling of the variants in flies reveals behavioral, axonal microtubule, and neuromuscular junction defects.