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Article

Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants.

Epilepsia - 1 Dec 2024

Montanucci Ludovica, Brünger Tobias, Boßelmann Christian M, Ivaniuk Alina, Pérez-Palma Eduardo, Lhatoo Samden, Leu Costin, Lal Dennis

Abstract excerpt

OBJECTIVE: Determining the pathogenicity of missense variants in clinical genetic tests for individuals with epilepsy is crucial for guiding personalized treatment. However, achieving a definitive pathogenic classification remains challenging, with most missense variants still classified as variants of uncertain significance (VUS) and with the availability of many computational tools which may provide conflicting...

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Identifiers

PMID: 39440667
DOI: 10.1111/epi.18155
PMCID: PMC11647429

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