Leitão, Elsa http://orcid.org/0000-0001-5051-9714
Schröder, Christopher
Parenti, Ilaria http://orcid.org/0000-0002-1825-6237
Dalle, Carine
Rastetter, Agnès
Kühnel, Theresa http://orcid.org/0000-0003-0629-3521
Kuechler, Alma
Kaya, Sabine
Gérard, Bénédicte
Schaefer, Elise
Nava, Caroline http://orcid.org/0000-0003-1272-0518
Drouot, Nathalie
Engel, Camille
Piard, Juliette http://orcid.org/0000-0001-5244-5325
Duban-Bedu, Bénédicte
Villard, Laurent http://orcid.org/0000-0001-6657-5008
Stegmann, Alexander P. A. http://orcid.org/0000-0002-9736-7137
Vanhoutte, Els K.
Verdonschot, Job A. J. http://orcid.org/0000-0001-5549-1298
Kaiser, Frank J.
Tran Mau-Them, Frédéric http://orcid.org/0000-0002-3795-9456
Scala, Marcello
Striano, Pasquale http://orcid.org/0000-0002-6065-1476
Frints, Suzanna G. M.
Argilli, Emanuela
Sherr, Elliott H.
Elder, Fikret http://orcid.org/0000-0002-2124-9089
Buratti, Julien http://orcid.org/0000-0002-0901-0905
Keren, Boris
Mignot, Cyril
Héron, Delphine
Mandel, Jean-Louis
Gecz, Jozef http://orcid.org/0000-0002-7884-6861
Kalscheuer, Vera M. http://orcid.org/0000-0001-6898-3259
Horsthemke, Bernhard http://orcid.org/0000-0002-8598-8147
Piton, Amélie http://orcid.org/0000-0003-0408-7468
Depienne, Christel http://orcid.org/0000-0002-7212-9554
Funding for this research was provided by:
U.S. Department of Health & Human Services | National Institutes of Health (R01NS058721)
Broad Institute
Deutsche Forschungsgemeinschaft
UK Essen, University Duisburg-Essen, Tom-Wahlig-Stiftung (TWS), the Deutsche Stiftung Neurologie (DSN), and Assistance Publique des Hôpitaux de Paris
Article History
Received: 28 January 2022
Accepted: 19 October 2022
First Online: 2 November 2022
Competing interests
: The authors declare no competing interests.
: Informed consents have been obtained for each patient/participant included in this study. Patient/participant/samples were anonymized for the genetic study at each participating center. Participants receive no compensation for inclusion in the genetic study. Genetic and clinical data shared in the context in this study cannot be used to identify individuals. Participating centers and data collection sites had study protocols approved by the local Institutional Review Boards (IRB) including INSERM (RBM C12-06) and Ethik Kommission der Medizinischen Fakultät der Universität Duisburg-Essen. Researchers and clinicians from participating centers contributing either data or intellectual input were involved at all stages of the study from design, implementation, drafting, and revising the manuscript, and are coauthors of the article.