Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy
Matched tissue-blood WES facilitates the diagnostic yield in pediatric drug-resistant epilepsy, highlighting its critical value in detecting genetic variants that may be missed by blood-only testing and providing essential support for precision diagnosis and therapy.
Authors
- Li Chen (ORCID: https://orcid.org/0000-0001-9048-9919)
- Feng Zhu (ORCID: https://orcid.org/0000-0002-4253-9173)
- Yuanyuan Ruan (ORCID: https://orcid.org/0000-0003-2877-8642)
- Hao Du (ORCID: https://orcid.org/0000-0003-1493-5811)
- Qing Lu (ORCID: https://orcid.org/0000-0001-8880-3315)
- Nannan Li (ORCID: https://orcid.org/0000-0002-6397-430X)
- Shengying Xia
- Dan Sun
- Jing Wang
Institutions
- Wuhan Union Hospital (CN)
- Wuhan Children's Hospital (CN)
- Aegis Technology (United States) (US)
- Union Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-02-06
- DOI
- https://doi.org/10.3389/fped.2026.1751113
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00