Flavio Dal Canto

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 incomplet...