Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

1. Department of Biochemistry and Molecular Biology and
2. Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
3. Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
4. Department of Cell Biology and Anatomy
5. Department of Clinical Neuroscience, Cumming School of Medicine
6. Alberta Children’s Hospital Research Institute
7. Hotchkiss Brain Institute, Cumming School of Medicine; and
8. Annie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada
9. Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China
10. Service de Génétique Clinique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» de l’Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France
11. Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France
12. Sorbonne University, Paris, France
13. Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
14. Department of Human Genetics, Hannover Medical School, Hannover, Germany
15. Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France
16. Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – INSERM UMR1231, équipe GAD, Dijon, France
17. Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France
18. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
19. Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
20. Department of Medical Genetics, Angers University Hospital, Angers, France
21. Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France
22. Service de Génétique Médicale, CHU d’Angers, Angers, France
23. Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands
24. Amsterdam Reproduction & Development Research Institute, Amsterdam, Netherlands
25. HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA
26. Greenwood Genetic Center, Greenwood, South Carolina, USA
27. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands
28. Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA
29. Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
30. Section of Genomics and Genetics, Imperial College London, London, United Kingdom
31. AdventHealth Genomics & Personalized Health at Orlando, Department of Medical Genetics & Genomics, Orlando, Florida, USA
32. Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, and
33. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
34. Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas, USA
35. Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France
36. Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France
37. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
38. Department of Microbiology, Immunology and Infectious Diseases, Snyder Institute for Chronic Diseases, and
39. Owerko Center, University of Calgary, Calgary, Alberta, Canada

@article{hua2026pathological,
author = {Hua, Michelle and Aghanoori, Mohamad-Reza and MacPherson, Melissa J and Ren, Yi and Siripala, Shehani V and Yang, Yifan and Or, Yvonne Yan Yan and Nguyen, Malea and Duba-Kiss, Robert and Feng, Daniel and Williams, Laura and Gafuik, Christopher J and Wang, GengYi and Quelin, Chloe and Keren, Boris and Schuhmann, Sarah and Vasileiou, Georgia and Bourgois, Alexia and Vitobello, Antonio and Philippe, Christophe and Stark, Zornitza and Leventer, Richard J and McGillivray, George and Tran Mau-Them, Frederic and Tessarech, Marine and Prouteau, Clément and Lakeman, Phillis and Motazacker, Mahdi M and Latner, Donald R and Caylor, Raymond C and van Ierland, Yvette and Prijoles, Eloise and Lichty, Angie and Theodorou, Evangelos and Sweetser, David A and Steel, Edward and Cobben, Jan and Dasouki, Majed J and Calame, Daniel G and Isidor, Bertrand and Cogné, Benjamin and Kesler, Mitchell and Rackel, Brooke and Clark, Isabel and Kurrasch, Deborah M and Teskey, G Campbell and Ellis, James and He, Guiqiong and Ryan, Scott D and Mahoney, Douglas J and Innes, A Micheil and Epp, Jonathan R and Yang, Guang},
title = {{Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures}},
journal = {The Journal of clinical investigation},
year = {2026},
month = jun,
volume = {136},
number = {14},
pages = {e199698},
publisher = {American Society for Clinical Investigation},
issn = {0021-9738},
doi = {10.1172/jci199698},
url = {https://doi.org/10.1172/jci199698},
pmid = {42275152},
pmcid = {PMC13367967}
}

TY - JOUR
AU - Hua, Michelle
AU - Aghanoori, Mohamad-Reza
AU - MacPherson, Melissa J
AU - Ren, Yi
AU - Siripala, Shehani V
AU - Yang, Yifan
AU - Or, Yvonne Yan Yan
AU - Nguyen, Malea
AU - Duba-Kiss, Robert
AU - Feng, Daniel
AU - Williams, Laura
AU - Gafuik, Christopher J
AU - Wang, GengYi
AU - Quelin, Chloe
AU - Keren, Boris
AU - Schuhmann, Sarah
AU - Vasileiou, Georgia
AU - Bourgois, Alexia
AU - Vitobello, Antonio
AU - Philippe, Christophe
AU - Stark, Zornitza
AU - Leventer, Richard J
AU - McGillivray, George
AU - Tran Mau-Them, Frederic
AU - Tessarech, Marine
AU - Prouteau, Clément
AU - Lakeman, Phillis
AU - Motazacker, Mahdi M
AU - Latner, Donald R
AU - Caylor, Raymond C
AU - van Ierland, Yvette
AU - Prijoles, Eloise
AU - Lichty, Angie
AU - Theodorou, Evangelos
AU - Sweetser, David A
AU - Steel, Edward
AU - Cobben, Jan
AU - Dasouki, Majed J
AU - Calame, Daniel G
AU - Isidor, Bertrand
AU - Cogné, Benjamin
AU - Kesler, Mitchell
AU - Rackel, Brooke
AU - Clark, Isabel
AU - Kurrasch, Deborah M
AU - Teskey, G Campbell
AU - Ellis, James
AU - He, Guiqiong
AU - Ryan, Scott D
AU - Mahoney, Douglas J
AU - Innes, A Micheil
AU - Epp, Jonathan R
AU - Yang, Guang
TI - Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
T2 - The Journal of clinical investigation
J2 - J Clin Invest
PY - 2026
DA - 2026/06/11
VL - 136
IS - 14
SP - e199698
SN - 0021-9738
PB - American Society for Clinical Investigation
DO - 10.1172/jci199698
UR - https://doi.org/10.1172/jci199698
LA - en
ER -

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