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Authors
Altay, Melek Firat https://orcid.org/0000-0002-8174-5631
Gregor, Anne
Braun, Dominique
Rieubland, Claudine
Gautschi, Matthias https://orcid.org/0000-0003-1358-1759
Perret Hoigné, Eveline
Schiller, Rike
Keren, Boris
Afenjar, Alejandra
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Martinez-Agosto, Julian A.
Rosenfeld, Jill A. https://orcid.org/0000-0001-5664-7987
Zweier, Christiane https://orcid.org/0000-0001-8002-2020
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Funding
Funding for this research was provided by:
Deutsche Forschungsgemeinschaft (ZW184/6-1)
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (10001220)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (U01HG007942)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (U2CNS132415)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (U01NS134356)
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Article History
Received: 6 May 2025
Revised: 10 August 2025
Accepted: 13 October 2025
First Online: 27 October 2025
Competing interests
: The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories (JAR). The other authors declare no conflicts of interest.
: Testing in a standard diagnostic setting did not require an ethic approval. Testing in a research setting was performed under ethical approval of the respective institutional review boards (e.g. UDN Institutional Review Board). The research protocol fulfilled the requirements of the local institutional ethics committee (Kantonale Ethikkommission Bern, 2021-01396). Consent for publication of genetic and clinical data, as well as photographs was obtained from the individuals’ parents or legal guardians. The study complied with the principles set out in the Declaration of Helsinki.
