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Author

T. Herget

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Open access Oct 2026

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functi...

L. Hecher, M. Woidy, F. Plein et al. · 0 citations
Open access Jul 2026

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.

Ugo Sorrentino, M. Brugger, A. Saparov et al. · 0 citations

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