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Authors
Keeley, Jessica https://orcid.org/0000-0001-9613-4713
Skoda, Zoe https://orcid.org/0009-0008-9288-0979
Utley, Karen
Marsh, Eric D. https://orcid.org/0000-0003-3264-0902
Conecker, Gabrielle A. https://orcid.org/0000-0003-3274-0292
Hecker, JayEtta https://orcid.org/0009-0001-2704-5044
Ludwig, Natasha N. https://orcid.org/0000-0002-8934-7267
Leonard, Helen https://orcid.org/0000-0001-6405-5834
Saldaris, Jacinta https://orcid.org/0000-0003-4638-6589
Jacoby, Peter https://orcid.org/0000-0001-5092-7697
Pincus, Sharon
Benke, Tim A. https://orcid.org/0000-0002-6969-5061
Demarest, Scott T. https://orcid.org/0000-0002-4544-3724
Downs, Jenny https://orcid.org/0000-0001-7358-9037
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Funding
Funding for this research was provided by:
National Institute of Health (U01NS114312)
International Foundation of CDKL5 Research
Stan Perron Charitable Foundation
National Institute of Health Career Development Award (1K23HD115865)
University of Western Australia
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Article History
Received: 30 April 2025
Accepted: 8 August 2025
First Online: 9 September 2025
Declarations
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: JK: Consultancy for Taysha. EM: Site PI for industry sponsored trials of SK Life, Takeda, Epygenix, Ionis, UCB pharma (Zogenix), and Acadia Pharmaceuticals. Grant funding from NIH, State of Pennsylvania and IRSF, RSRT, and LouLou foundation. Consulting/Advisory Board member for Acadia Pharmacueticals, Stoke, and Taysha therapeutics. HL: Consultancy for Marinus, Acadia, Avexis, Orion, Neurogene and Taysha. Clinical Trials with Anavex and Newron. All remuneration has been made to her department. TB: Research funding from GRIN2B Foundation, the International Foundation for CDKL5 Research, Loulou Foundation, the National Institutes of Health, and Simons Foundation. Consultancy for Alcyone, AveXis, GRIN Therapeutics, GW Pharmaceuticals, the International Rett Syndrome Foundation, Marinus Pharmaceuticals, Neurogene, Ovid Therapeutics, and Takeda Pharmaceutical Company Limited. Clinical trials with Acadia Pharmaceuticals Inc., GW Pharmaceuticals, Ionis, Marinus Pharmaceuticals, Neurogene, Ovid Therapeutics, and Rett Syndrome Research Trust. All remuneration has been made to his department. SD: Consulted for Biomarin, Neurogene, Marinus, Tysha, Ultragenyx, UCB, Capsida, Encoded, Longboard, Mahzi therapeutics, and Ovid Therapeutics. Funding from NIH, Project 8P and Mila's Miracle Foundation. Advisory board member for non-profit foundations Rare X, SLC6A1 Connect, Project 8P, Ring14 USA, FamilieSCN2A and N of 1 Collaborative. JD: Consultancy for Marinus, Ultragenyx, Acadia, Avexis, Orion, Takeda, Neurogene and Taysha. Clinical Trials with Anavex and Newron. Consulting/Advisory Board member for SCN2A Australia. All remuneration has been made to her department. All other authors have no relevant conflicts of interest to declare.
