dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Stefanski, Arthur |
dc.contributor.author | Pérez-Palma, Eduardo |
dc.contributor.author | Brünger, Tobias |
dc.contributor.author | MONTANUCCI, LUDOVICA |
dc.contributor.author | Gati, Cornelius |
dc.contributor.author | Klöckner, Chiara |
dc.contributor.author | Abulí Vidal, Anna |
dc.date.accessioned | 2023-12-19T07:23:36Z |
dc.date.available | 2023-12-19T07:23:36Z |
dc.date.issued | 2023-12 |
dc.identifier.citation | Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, et al. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain. 2023 Dec;146(12):5198–208. |
dc.identifier.issn | 5198–5208 |
dc.identifier.uri | https://hdl.handle.net/11351/10705 |
dc.description | Epilèpsia; Genètica; Trastorn del neurodesenvolupament |
dc.description.sponsorship | D.L.’s work was supported by funds from the Dravet Syndrome Foundation (grant number, 272016), the BMBF (Treat-ION grant, 01GM1907), National Institute of Neurological Disorders and Stroke (Channelopathy-Associated Epilepsy Research Center, 5-U54-NS108874). E.P-P. is supported by Chilean National Agency for Investigation and Development, ANID Fondecyt grant 1221464 and the FamilieSCN2A foundation 2020 Action Potential Grant. P.M. received support by the BMBF (Treat-Ion2, 01GM2210B) and the Fonds National de la Recherche Luxembourg in Luxembourg (Research Unit FOR-2715, FNR grant NTER/DFG/21/16394868 MechEPI2). |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Brain;146(12) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Fenotip |
dc.subject | Anomalies cromosòmiques |
dc.subject | Genètica mèdica |
dc.subject.mesh | Phenotype |
dc.subject.mesh | Mutation, Missense |
dc.subject.mesh | Genetic Association Studies |
dc.title | SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/brain/awad292 |
dc.subject.decs | fenotipo |
dc.subject.decs | mutación de sentido erróneo |
dc.subject.decs | estudios de asociación genética |
dc.relation.publishversion | https://doi.org/10.1093/brain/awad292 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Stefanski A, Montanucci L] Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH, USA. [Pérez-Palma E] Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago de Chile, Chile. [Brünger T] Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne, Germany. [Gati C] Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA, USA. [Klöckner C] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. [Abulí A] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 37647852 |
dc.identifier.wos | 001105968000001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |