@article {819,
	title = {Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy},
	journal = {Nature Genetics},
	year = {2025},
	month = {Oct-04-2025},
	issn = {1061-4036},
	doi = {10.1038/s41588-025-02159-5},
	url = {https://www.nature.com/articles/s41588-025-02159-5https://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5.pdfhttps://www.nature.com/articles/s41588-025-02159-5},
	author = {Greene, Daniel and De Wispelaere, Koenraad and Lees, Jon and Codina-Sol{\`a}, Marta and Jensson, Brynjar O. and Hales, Emma and Katrinecz, Andrea and Nieto Molina, Esther and Sevilla Porras, Marta and Pascoal, Sonia and Valenzuela, Irene and Pfundt, Rolph and Schot, Rachel and Sleutels, Frank and Wijngaard, Robin and Arroyo Carrera, Ignacio and Duat Rodr{\'\i}guez, Anna and Atton, Giles and Casas-Alba, Didac and Donnelly, Deirdre and Fern{\'a}ndez Garoz, B{\'a}rbara and Foulds, Nicola and Garc{\'\i}a-Navas N{\'u}{\~n}ez, Deyanira and Gonz{\'a}lez Alguacil, Elena and Jarvis, Joanna and Kant, Sarina G. and Madrigal Bajo, Irene and Martinez-Monseny, Antonio F. and McKee, Shane and Sariego Jamardo, Andrea and Stefansson, Kari and Rodr{\'\i}guez-Revenga Bodi, Laia and Ortiz Cabrera, Nelmar Valentina and Sulem, Patrick and Suri, Mohnish and Van Karnebeek, Clara and Vasudevan, Pradeep and Vega Pajares, Ana Isabel and Carracedo, {\'A}ngel and Engelen, Marc and Lapunzina, Pablo and Morgan, Natasha P. and Morte, Beatriz and Rump, Patrick and Stirrups, Kathy and Tizzano, Eduardo F. and Barakat, Tahsin Stefan and O{\textquoteright}Donoghue, Michael and P{\'e}rez-Jurado, Luis Alberto and Freson, Kathleen and Mumford, Andrew D. and Turro, Ernest}
}
