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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.

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
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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