biostudies-literatureJulia-Palacios NGeneralitat de CatalunyaGENOMIT-4PERISAsociación de Enfermos de Patologías MitocondrialesCERCA ProgrameInstituto de Salud Carlos IIIFundación Ana Carolina Diez MahouDepartament de Salut de la Generalitat de CatalunyaEuropean UnionAgència de Gestió d&apos;Ajuts Universitaris i de Recercafcaf348https://www.ebi.ac.uk/biostudies/studies/S-EPMC12484445biostudies-literatureUnknown7(5)Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the <i>SLC31A1</i> gene. Recently, bi-allelic mutations in <i>SLC31A1</i> 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 hypBrain communicationsClinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.PMC124844452021:SGR 01423EJPRD22-123FI18/00253SLT002/16/00174Hoenicka JCodina AAbd Elmaksoud MGaffney PPalau FMaroofian RBauer PAnjum MNOrtigoza-Escobar JDO'Callaghan MAlijanpour SMuchart-Lopez JJulia-Palacios NUrreizti RAbabneh FWierenga KJWebb BDBaide-Mairena HGarcia-Cazorla AHoulden HZonic ECristian IMunoz-Pujol GMachado-Casas ISTyler MFayazi ATort FArtuch RMorrison JBarba UCheema HCarroll CJUrbaniak MParedes-Fuentes AJRibes ABertoli-Avella AMSantos-Ocana CGomez-Chiari MMiryounesi MAl-Sannaa NTonekaboni SHfalseClinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the <i>SLC31A1</i> gene. Recently, bi-allelic mutations in <i>SLC31A1</i> 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 hyp2025-01-01T00:00:00Z20252026-05-04T03:17:33.357Z2026-05-04T03:13:34.45ZS-EPMC124844454104085010.1093/braincomms/fcaf348