{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Julia-Palacios N"],"funding":["Generalitat de Catalunya","GENOMIT-4","PERIS","Asociación de Enfermos de Patologías Mitocondriales","CERCA Programe","Instituto de Salud Carlos III","Fundación Ana Carolina Diez Mahou","Departament de Salut de la Generalitat de Catalunya","European Union","Agència de Gestió d&apos;Ajuts Universitaris i de Recerca"],"pagination":["fcaf348"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12484445"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["7(5)"],"pubmed_abstract":["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 hyp"],"journal":["Brain communications"],"pubmed_title":["Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases."],"pmcid":["PMC12484445"],"funding_grant_id":["2021:SGR 01423","EJPRD22-123","FI18/00253","SLT002/16/00174"],"pubmed_authors":["Hoenicka J","Codina A","Abd Elmaksoud M","Gaffney P","Palau F","Maroofian R","Bauer P","Anjum MN","Ortigoza-Escobar JD","O'Callaghan M","Alijanpour S","Muchart-Lopez J","Julia-Palacios N","Urreizti R","Ababneh F","Wierenga KJ","Webb BD","Baide-Mairena H","Garcia-Cazorla A","Houlden H","Zonic E","Cristian I","Munoz-Pujol G","Machado-Casas IS","Tyler M","Fayazi A","Tort F","Artuch R","Morrison J","Barba U","Cheema H","Carroll CJ","Urbaniak M","Paredes-Fuentes AJ","Ribes A","Bertoli-Avella AM","Santos-Ocana C","Gomez-Chiari M","Miryounesi M","Al-Sannaa N","Tonekaboni SH"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.","description":"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 hyp","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-05-04T03:17:33.357Z","creation":"2026-05-04T03:13:34.45Z"},"accession":"S-EPMC12484445","cross_references":{"pubmed":["41040850"],"doi":["10.1093/braincomms/fcaf348"]}}