Author

Nadja Pekkola Pacheco

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Review Open access Sep 2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Pathogenic variants in the noncoding gene RNU4-2 cause ReNU syndrome, a common neurodevelopmental disorder. Although the core phenotype is well described, longitudinal symptom progression and family perspectives remain insufficiently characterized. We identified 11 individuals with RNU4-2 pathogenic variants through re...

Nadja Pekkola Pacheco, M. Kvarnung, A. Hammarsjö et al. · Clinical Genetics · 0 citations

Review Open access Sep 2026

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

OBJECTIVE A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2-2 variants causing a recently reported, severe, recessive DEE. METHODS We screened individuals who have...

Olivia J. Henry, Nadja Pekkola Pacheco, I. Duba et al. · Epilepsia · 0 citations