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Authors
Cuinat, Silvestre https://orcid.org/0000-0002-0763-5661
Chatron, Nicolas https://orcid.org/0000-0003-0538-0981
Petit, Florence
Brunelle, Perrine https://orcid.org/0000-0002-3589-6885
Dincuff, Etienne
Aubert Mucca, Marion https://orcid.org/0000-0002-8638-2630
Bieth, Eric
Schmetz, Ariane https://orcid.org/0000-0001-8220-7854
Rieder, Harald
Wollnik, Bernd https://orcid.org/0000-0003-2589-0364
Kaulfuß, Silke https://orcid.org/0000-0003-2577-9711
Yigit, Gökhan https://orcid.org/0000-0003-2777-0198
McKeown, Colina
Savage, Tim
Mulligan, Meghan R. https://orcid.org/0009-0009-7673-5111
Bicknell, Louise S. https://orcid.org/0000-0001-6899-9322
Corsten-Janssen, Nicole https://orcid.org/0000-0002-9438-2374
Edery, Patrick
Lesca, Gaetan https://orcid.org/0000-0001-7691-9492
de Villartay, Jean-Pierre
Putoux, Audrey https://orcid.org/0000-0001-5496-4604
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Funding
Funding for this research was provided by:
Hospices Civils de Lyon
Neurological Foundation of New Zealand
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Article History
Received: 24 June 2024
Revised: 13 January 2025
Accepted: 13 February 2025
First Online: 20 March 2025
Competing interests
: The authors declare no competing interests.
: According to the principles outlined in the Helsinki Declaration, written consent for genetic testing was obtained for all the parents of the patients included in this study. Genetic tests were all performed in the context of diagnosis and care in each university medical center. Additional written consents for the publication of photographs were obtained for patients 1, 2, 3, 4, 5. Specific written consent for functional studies were obtained for patients 1, 2.
