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Article

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.

Journal of medical genetics - 23 Jul 2026

Yilmaz Sanem, Avci Durmusalioglu Enise, Toprak Dogan Dilara Ece, Kanmaz Seda, Atik Tahir, Mutlu Mehmet Burak, Yiş Uluç, Yilmaz Unsal, Unalp Aycan, Gökben Sarenur, Baş Hasan, Rostamlou Arman, Gunel Nur Selvi, Gunduz Cumhur, Tekgul Hasan, Isik Esra

Abstract excerpt

BACKGROUND: Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs) with unresolved genetic causes. MATERIALS AND METHODS: A total of 38 children with early-onset DEEs (aged 0-18 years) who remained undiagnosed despite conventional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41991279
DOI: 10.1136/jmg-2026-111485

Genes

PHACTR1

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