Open access
Oct 2026
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...
Camilla Meossi, Lorenzo Cipriano, Flavio Dal Canto et al.
· Medical Science · 0 citations