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

Sebastián Ortiz; Leonardo Affronte; Chiara Bagliani; Serene El‐Kamand; Anthony Sze Hon Kan; Isabel T. Kristoffersen; Rebekka S. Dahl; Anne F. Højte; Stéphane Auvin; Arjan Bouman; Shimriet Zeidler; Gerhard Joseph Kluger; Gaetan Lesca; Nicolas Chatron; Zeynep Goke‐Samar; Maria Papadopoulou; Matthildi Athina Papathanasiou Terzi; Elise Schaefer; Antoine Martin; Sarah Baer; Mohammed Al Owain; Saud Takroni; Hesham Al‐Dhalaan; Chiara Azzari; Alessandra Rossi; Nicoletta Zanotta; Cristina Digilio; Nicola Specchio; Angela de Dominicis; Pasquale Striano; Alessandro Orsini; M. Mancardi; Sebastian Neuens; Melanie Jennesson‐Lyver; Ira Benkel‐Herrenbrueck; David Genevieve; Richard Sidlow; Kamer Tezcan; Ilona Krey; Johannes R. Lemke; Konrad Platzer; Damien Lederer; Inga Talvik; Ulvi Vaher; Kees P. J. Braun; A. M. Guerrot; Rebecca More; Matthias De Wachter; Sarah Weckhuysen; Evelina Carapancea; Maria Roberta Cilio; Julia Jacobs; Markéta Vlčková; Simona Balestrini; R. Guerrini; Giulio Peroni; Inger‐Lise Mero; Walaa Elnaggar; Nour Elkhateeb; Ariane Schmetz; Denise Chan; Candace Muss; Boris Chaumette; Adrien Legrand; Amy McTague; Tommy Stödberg; Rebekah V. Harris; Nancy Pinnell; Ingrid E. Scheffer; Mary Chebib; Elena Gardella; Philip K. Ahring; Nathan L. Absalom; Petra Muschke

doi:10.1002/epi.70096

January 28, 2026EpilepsiaOpen Access

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

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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.

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Implication

Observational analysis finds seizure onset age predicts motor outcomes in individuals with GABRB2 and GABRB3 variants, suggesting urgency for interventions.

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.

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Cite This Study

Ortiz et al. (2026) studied this question.

synapsesocial.com/papers/69a75c59c6e9836116a252a1 https://doi.org/10.1002/epi.70096

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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