A Mild Neurodevelopmental Phenotype Associated with a Novel BRAT1 Variant: Expanding Genotype-Phenotype Correlations

Background:BRAT1-related disorders constitute a continuous neurodevelopmental spectrum ranging from rigidity and multifocal seizure syndrome, lethal neonatal form (RMFSL) to milder phenotypes characterized by cerebellar involvement and variable developmental impairment. Genotype-phenotype correlations remain incompletely defined, particularly for missense variants that may retain residual function.