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

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27 Oct 2026 0 comments

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. Objectives: To characterize clinical and molecular findings in a patient with a mild BRAT1-related...