Mutations in the Small Nuclear RNA Gene RNU2-2 Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro Nature genetics（2025）
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