Article

EpiPred: A gene-specific machine learning model for classifying missense variants in the epilepsy-related gene <i>STXBP1</i>

2025-08-10

Abstract excerpt

<h4>ABSTRACT</h4> Missense variants in the STXBP1 gene 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), complicating diagnosis, counseling, and patient eligibility fo...

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Literature Corpus work: b206245f-d48a-56e6-86df-ee9f42cf822e
DOI: 10.1101/2025.08.09.669488

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