March 3, 2026Open Access

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Key Points

Age at seizure onset is a reliable biomarker for predicting motor dysfunction in individuals with GABRB2 and GABRB3 variants.
GoF variants correlate with a more severe neurodevelopmental trajectory, impacting prognosis and intervention strategies.
The study emphasizes the importance of early intervention based on seizure onset for improving outcomes in affected individuals.
These findings provide valuable data for comparing the efficacy of targeted therapeutic interventions for GABA_A receptor-related disorders.

Abstract

We found a clear genotype-phenotype correlation in GABRB2- and GABRB3-related disorders, demonstrating that GoF variants are associated with a more severe neurodevelopmental trajectory. The age at seizure onset serves as a biomarker for predicting motor outcomes in individuals with GoF variants. These findings provide guidance regarding prognosis, need for early intervention, and data for comparison of efficacy in targeted therapeutic interventions for GABAA receptor-related disorders.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Key Points

Abstract

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