Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus K. O. Burstedt, Daniel Carlberg, Angelica Maria Delgado-Vega, Anna Hammarsjö, S. A. Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Asa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, , Tommy Stödberg
The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.
medRxiv · Feb 23, 2026 · PreprintGenetic & Genomic Medicine