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Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
Epilepsy Research|August 21, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?Paula Marques, Patrick B Moloney, Caihong Ji, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathiesJacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.
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