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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.

STXBP1 variants are a frequent cause of early-onset developmental and epileptic encephalopathies and related neurodevelopmental disorders, but the clinical interpretation of these variants remains a major challenge. Most reported STXBP1 missense variants are classified as variants of uncertain significance (VUS), compl...

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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