Replication data for: Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy.

Dataset

DOI

Five patients with de novo SHANK3 variants, all of whom exhibited cardiac involvement, including myocardial dysfunction, congenital heart disease (patent ductus arteriosus), and a case of postictal atrial fibrillation. Our findings emphasize an elevated risk of cardiovascular abnormalities in patients with SHANK3 pathogenic variants.

Identifier
DOI	https://doi.org/10.34810/data1718
Related Identifier	IsSupplementTo https://doi.org/10.1016/j.ejmg.2024.104965
Metadata Access	https://dataverse.csuc.cat/oai?verb=GetRecord&metadataPrefix=oai_datacite&identifier=doi:10.34810/data1718

Provenance
Creator	Esmel Vilomara, Roger ; Dougherty-De Miguel, Lucy ; Artigas, Alicia (ORCID: 0000-0003-0486-268X); Turón-Viñas, Eulàlia ; Cuscó, Ivon ; Díaz-Gómez, Asunción; Panadés-de Olivera, Luisa (ORCID: 0000-0001-9736-764X); Rocamora, Rodrigo ; Boronat, Susana
Publisher	CORA.Repositori de Dades de Recerca
Contributor	Esmel Vilomara, Roger; Universitat Autònoma Barcelona
Publication Year	2024
Rights	CC0 1.0; info:eu-repo/semantics/openAccess; http://creativecommons.org/publicdomain/zero/1.0
OpenAccess	true
Contact	Esmel Vilomara, Roger (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetricia i Ginecologia, i de Medicina Preventiva i Salut Públicai)

Representation
Resource Type	Clinical data; Dataset
Format	application/vnd.oasis.opendocument.text; text/plain
Size	14129; 6346
Version	1.2
Discipline	Life Sciences; Medicine