Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

  1. Daniel Greene
  2. Koenraad De Wispelaere
  3. Jon Lees
  4. Marta Codina-Solà
  5. Brynjar O. Jensson
  6. Emma Hales
  7. Andrea Katrinecz
  8. Esther Nieto Molina
  9. Sonia Pascoal
  10. Rolph Pfundt
  11. Rachel Schot
  12. Marta Sevilla Porras
  13. Frank Sleutels
  14. Irene Valenzuela
  15. Robin Wijngaard
  16. Ignacio Arroyo Carrera
  17. Giles Atton
  18. Didac Casas-Alba
  19. Deirdre Donnelly
  20. Anna Duat Rodríguez
  21. Bárbara Fernández Garoz
  22. Nicola Foulds
  23. Deyanira García-Navas Núñez
  24. Elena González Alguacil
  25. Joanna Jarvis
  26. Sarina G. Kant
  27. Irene Madrigal Bajo
  28. Antonio F. Martinez-Monseny
  29. Shane McKee
  30. Nelmar Valentina Ortiz Cabrera
  31. Laia Rodríguez-Revenga Bodi
  32. Andrea Sariego Jamardo
  33. Kari Stefansson
  34. Patrick Sulem
  35. Mohnish Suri
  36. Clara Van Karnebeek
  37. Pradeep Vasudevan
  38. Ana Isabel Vega Pajares
  39. Ángel Carracedo
  40. Marc Engelen
  41. Pablo Lapunzina
  42. Natasha P. Morgan
  43. Beatriz Morte
  44. Patrick Rump
  45. Kathy Stirrups
  46. Eduardo F. Tizzano
  47. Tahsin Stefan Barakat
  48. Michael O’Donoghue
  49. Luis Alberto Pérez-Jurado
  50. Kathleen Freson
  51. Andrew D. Mumford
  52. Ernest Turro
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  1. Version published to 10.1038/s41588-025-02159-5
  2. Version published to 10.1101/2024.09.03.24312863 on medRxiv