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Authors
Desprez, Florence
Remize, Solène
François-Moutal, Liberty
Ung, Dévina C.
Dangoumau, Audrey
Marouillat, Sylviane https://orcid.org/0000-0001-7918-9755
Kennedy, Joanna
Low, Karen J.
Kumps, Camille https://orcid.org/0000-0002-5764-5470
Unger, Sheila
Keren, Boris
de Sainte Agathe, Jean-Madeleine https://orcid.org/0000-0002-7753-8226
Poirsier, Céline
Mirzaa, Ghayda M. https://orcid.org/0000-0003-2648-7657
Aldinger, Kimberly A. https://orcid.org/0000-0002-5406-8911
Lesca, Gaetan https://orcid.org/0000-0001-7691-9492
Ruault, Valentin
Finnila, Candice R.
Kelley, Whitley V.
Latner, Donald R. https://orcid.org/0009-0005-0324-6916
Guptha, Sushma N.
Tuttle, Annabelle
Glass, Ian https://orcid.org/0000-0001-6762-8407
Chung, Wendy K. https://orcid.org/0000-0003-3438-5685
Hayek, Jennifer Cassady
Boute, Odile
Moutal, Aubin https://orcid.org/0000-0003-4268-1206
Jeanne, Médéric
Laumonnier, Frédéric https://orcid.org/0000-0003-2567-0708
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Funding
Funding for this research was provided by:
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (R21NS137054-01)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (R01NS119263)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (R01NS119263-04S1)
Jordan’s Guardian Angels, the Sunderland Foundation
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (UM1HG007301)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (UM1HG007301)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (UM1HG007301)
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Article History
Received: 16 September 2024
Revised: 21 October 2025
Accepted: 6 November 2025
First Online: 24 November 2025
Ethics declaration
: Parents and legal guardians of all affected individuals gave their informed consent for the publication of clinical and genetic information, and the study was approved by the respective local ethics committees. The study complied with the principles set out in the Declaration of Helsinki. All mouse experiments were performed according to protocols approved by the French Ministry of research and by INSERM (Project authorization numbers 01456.03 and HC2021-03). The use of the hiPSC cell line ASE-9211 has been declared to the French ministry of Research (CODECOH reference number DC-2022-5113) and the generation of the edited WT/p.Glu41Lys hiPSC line is included in a regulatory approval from the Ministry of Research (DUO 7675).
: The authors declare no competing interests.
