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Author

L. T. Dang

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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
Review Jul 2026

A new era of integration of genetics and neurology.

Genomics is rapidly becoming an essential component of day-to-day pediatric neurology practice rather than a niche research discipline, and preparing the workforce through initiatives such as the Child Neurology Society Genetics Curriculum and partnering with patient advocacy organizations will be critical to ensuring...

Kuntal Sen, Andrea L. Gropman, Cansu Ensert Cihan et al. · 0 citations

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