Translational Research to Transform Care in the Developmental and Epileptic Encephalopathies

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Trupti Jadhav, Sophie E Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald-Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A Sandaradura, Ingrid E Scheffer, Zornitza Stark, Katherine B Howell

2026-05-04

OBJECTIVE: To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is ass..

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

E Leitão, A Santini, B Cogne, M Essid, M Athanasiadou, CW LaFlamme, P Marijon, V Bernard, K Jousselin, N Chatron, G Barcia, B Keren, C Mignot, P Charles, T Besnard, R Paluch, JM de Sainte Agathe, EP Almanza Fuerte, S Sengupta, M Milh

2026-04-01

Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes RNU4-2 (ReNU syndrome), R..

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy

ATG Chiu, MF Bennett, H Thiyagarajah, AL Schneider, SMW Macdonald, T Witkowski, EP Almanza Fuerte, TJ Allan, N Lieffering, B Robinson, CW LaFlamme, S Sengupta, CWT Chung, M Cardamone, C Gray, P Perucca, SF Berkovic, HC Mefford, MS Hildebrand, IE Scheffer

2026-01-01

RNU2-2 is a non-coding small nuclear RNA (snRNA) that forms part of the spliceosome. We identified recurrent pathogenic RNU2-2 var..

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Christy W LaFlamme, Pierre Marijon, Virginie Bernard, Nicolas Chatron, Giulia Barcia, Boris Keren, Cyril Mignot, Perrine Charles, Thomas Besnard, Jean-Madeleine de Sainte Agathe, Edith P Almanza Fuerte, Soham Sengupta, Mathieu Milh, Francis Ramond, Talia Allan

2025-09-04

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1, and RNU2-2 have recently been linked to ..