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Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.

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Title: Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.
Authors: Arancibia F; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Martin F; Unidad Asesoramiento Genético Oncológico, Fundación Arturo López Pérez, Santiago, Chile., Ruiz-Fuentes J; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Diaz E; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile., Hermosilla T; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Gonzalez W; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Center for Bioinformatics, Simulations and Modelling (CBSM), University of Talca, 3460000, Talca, Chile., Simon F; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile.; Laboratory of Integrative Physiopathology, Faculty of Life Sciences, Universidad Andres Bello, Santiago, Chile.; Millennium Institute On Immunology and Immunotherapy, Santiago, Chile., Avila-Jaque D; Hospital San Juan de Dios, Santiago, Chile., Luna-Álvarez M; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico., Dávila Ortiz de Montellano DJ; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico., Miranda M; Fundación Diagnosis, Santiago, Chile.; Clínica MEDS, Santiago, Chile., Bustamante ML; Fundación Diagnosis, Santiago, Chile. mbustamante@uchile.cl.; Programa de Genética, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. mbustamante@uchile.cl., Varela D; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, 8380453, Santiago, Chile. dvarela@uchile.cl.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile. dvarela@uchile.cl.
Source: Biological research [Biol Res] 2025 Mar 26; Vol. 58 (1), pp. 18. Date of Electronic Publication: 2025 Mar 26.
Publication Type: Journal Article
Journal Info: Publisher: Biomed Central, Ltd Country of Publication: England NLM ID: 9308271 Publication Model: Electronic Cited Medium: Internet ISSN: 0717-6287 (Electronic) Linking ISSN: 07169760 NLM ISO Abbreviation: Biol Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:0717-6287
DOI:10.1186/s40659-025-00589-3