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Author

Jack M. Parent

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Open access Sep 2026

Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.

EpiPred is a gene-specific machine learning classifier that predicts the pathogenicity of STXBP1 missense variants and tests these predictions using empirical evidence from well-established cellular assays, coupling gene-calibrated machine learning with orthogonal variant-effect assays and public deployment.

J. D. Calhoun, Cheng-Bing Wang, Carina G. Biar et al. · 0 citations
Open access Aug 2026

A CK2α–G3BP1 signaling axis regulates local translation in developing neurons and is disrupted in OCNDS

Findings establish OCNDS as a disorder of compartment-specific translational dysregulation driven by impaired CK2α–G3BP1 control of RNA granule homeostasis, and establish G3bp1 knockdown rescues translational and morphological phenotypes across all OCNDS alleles.

Manasi Agrawal, Meghal Desai, Shruti Ghumra et al. · 0 citations
Review Open access Jul 2026

Modeling Epilepsies with Human Brain Organoids: Recent Advances and Ongoing Challenges

Recent advances and ongoing challenges of human cortical organoid models of genetic and acquired epilepsies hold promise for advancing mechanistic understanding of epilepsy and enabling the development of more precise therapeutic strategies.

Miranda Walker, Jack M. Parent · 0 citations

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