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In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutations in SLC31A1 have been associated with a new neurodevelopmental disorder. This study presents clinical, genetic, and biochemical findings from 13 new cases across 10 families worldwide. RNA sequencing evaluated gene expression, and Western blotting assessed copper transporter 1 protein levels. Additionally, mitochondrial respiratory capacity was measured via high-resolution respirometry. Affected individuals exhibited a distinct clinical phenotype characterized by early-onset epileptic encephalopathy, severe neurodevelopmental delay and hypotonia, with high mortality. Neuroimaging revealed significant brain atrophy and white matter abnormalities. Genetic analysis identified bi-allelic SLC31A1 variants, predominantly p.His120Gln in six cases and p.(Arg102Cys\/His) in three cases. Functional studies in patient fibroblasts demonstrated impaired mitochondrial respiration. This study significantly broadens the clinical spectrum of this recently described syndrome, presenting as a severe developmental encephalopathy with high mortality risk, and suggests mitochondrial dysfunction as a potential pathomechanism. These findings contribute to the mounting evidence linking copper transporter 1 dysfunction to neurodegeneration, underscoring the urgency for further therapeutic investigations.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf348","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T13:17:41Z","timestamp":1758633461000},"source":"Crossref","is-referenced-by-count":4,"title":["Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2560-3970","authenticated-orcid":false,"given":"Natalia","family":"Juli\u00e1-Palacios","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona 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Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida M","family":"Bertoli-Avella","sequence":"additional","affiliation":[{"name":"Medical Genetics and Reporting, CENTOGENE GmbH , 18055 Rostock ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"G\u00f3mez-Chiari","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Muchart-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham J","family":"Paredes-Fuentes","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Cl\u00ednic de Barcelona , 08028 Barcelona ,","place":["Spain"]},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS) , 08036 Barcelona ,","place":["Spain"]},{"name":"Department of Clinical Biochemistry, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar","family":"O\u2019Callaghan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona ,","place":["Spain"]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII) , 28029 Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene S","family":"Machado-Casas","sequence":"additional","affiliation":[{"name":"Neuropediatrics and Neurodevelopment Unit, Hospital Universitario Cl\u00ednico San Cecilio , 18007 Granada ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Cristian","sequence":"additional","affiliation":[{"name":"Division of Genetics, Arnold Palmer Hospital for Children , 32806 Orlando, FL ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Morrison","sequence":"additional","affiliation":[{"name":"Division of Genetics, Arnold Palmer Hospital for Children , 32806 Orlando, FL ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angels","family":"Garcia-Cazorla","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, IRSJD , 08950 Barcelona ,","place":["Spain"]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII) , 28029 Madrid ,","place":["Spain"]},{"name":"Neurometabolism and Synaptic Metabolism Lab, Department of 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,","place":["Spain"]},{"name":"Centro Andaluz de Biolog\u00eda del Desarrollo, Universidad Pablo de Olavide , 41013 Sevilla ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Millie","family":"Tyler","sequence":"additional","affiliation":[{"name":"Cardiovascular and Genomics Research Institute, City St. George's, University of London , London SW17 0RE ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Gaffney","sequence":"additional","affiliation":[{"name":"Genes and Human Disease Research Program, Oklahoma Medical Research Foundation , Oklahoma City, OK 73104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2814-6955","authenticated-orcid":false,"given":"Christopher J","family":"Carroll","sequence":"additional","affiliation":[{"name":"Cardiovascular and Genomics Research Institute, City St. George's, University of London , 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