Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects

This study provides systematic benchmarks for algorithms in <i>SCN3A</i>-related DEEs. Integration of reliable algorithms with gene-specific thresholds into clinical variant interpretation pipelines could possibly refine the pathogenicity assessment of missense variants, subsequently informing timely risk stratification and personalized therapeutic strategies for affected patients.

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Publication Details

Journal
Frontiers in Neurology
Published
2026-02-05
DOI
https://doi.org/10.3389/fneur.2026.1772239
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects

Chen Yong-jun, Jia-Xing Zhao, Hong-Wei Wang, Wen-hui Liu et al.
Frontiers in Neurology
Genomics and Rare Diseases
article

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects

Chen Yong-jun, Jia-Xing Zhao, Hong-Wei Wang, Wen-hui Liu, Peng-Yu Wang
article en

Abstract

This study provides systematic benchmarks for algorithms in <i>SCN3A</i>-related DEEs. Integration of reliable algorithms with gene-specific thresholds into clinical variant interpretation pipelines could possibly refine the pathogenicity assessment of missense variants, subsequently informing timely risk stratification and personalized therapeutic strategies for affected patients.

Frontiers in NeurologyVol. 17
Second Affiliated Hospital of Guangzhou Medical University (CN), First Affiliated Hospital of University of South China (CN), First Affiliated Hospital of Jinan University (CN), University of South China (CN), Guangzhou Medical University (CN)
University of South China
Good health and well-being
Openalex Percentile: Top 61%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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