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The genetic analyses were approved by the medical research ethics committee of \u201cAssistance Publique-H\u00f4pitaux de Paris\u201d (Authorization #A75, protocol code: DC-2013-2031-A75, date of approval: 2014\/07\/10, revised on 2019\/10\/11) and the sponsor was Inserm (Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Paris, France). Post-mortem analyses were authorized according to French regulation and approval of the Ministry of Higher Education and Research (agreement AC-2013-1887). Procedures using human tissue were declared and approved by the French Ministry of Research and Higher Education (Codecoh DC-2024-6851, 28\/01\/2025). Procedures using recombinant plasmids in cell lines received approval from the French authorities for the use of genetically modified organisms (DUO #13045, 7\/02\/2025).","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":3,"name":"Ethics","label":"Clinical trial number","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was obtained from all participants for genetic analyses, or from patients and\/or family members for post-mortem analyses. No identifiable information are presented in the manuscript as all data (family trees and clinical data) have been anonymized. To ensure de-identification of families and individuals, the order of siblings were changed and the number of unaffected siblings was not specified in family trees, no gender was indicated and age of onset and age of death have been presented as ranges in Tables.","order":4,"name":"Ethics","label":"Consent\u00a0to participate declaration","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"29"}}