GNAO1-related epilepsy: genotype-phenotype correlations

Awardee: Erika Axeen

Institution: University of Virginia

Grant Amount: $40,000

Funding Period: August 1, 2025 - July 31, 2026

Summary: This study leverages a clinician-validated phenotype database to improve diagnostic accuracy, identify genotype-phenotype correlations, and refine personalized therapeutic strategies for GNAO1 epilepsy patients.

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Pilot clinical trial to assess efficacy of Caffeine Citrate for controlling GNAO1-related dyskinetic crises

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Pre-clinical development of a CRISPR-mediated gene therapy for GNAO1 Encephalopathy using patient stem cells and a mouse model