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
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
In FTD and ALS, these results support universal access to genetic testing independent of age at onset or family history, and provide a clear diagnostic advantage in NDDs marked by substantial clinical and genetic overlap.
Emma Ehn, H. Thonberg, Inger Nennesmo et al.· Human Molecular Genetics· 0 citations
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