ArticleBrain communications2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
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Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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Who cites it
2 citing papers in PubMed.
- Cu(I) and Cu(II) binding by hyperactive variants of the human CTR1 N-terminus: Insights from cellular and model peptide studies.Journal of inorganic biochemistry · 2026Article
- Distinct signaling mechanisms and proteome phenotypes are elicited by compartment-specific genetic defects of copper homeostasis.bioRxiv : the preprint server for biology · 2026Article
Corrections and comments
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Authors and funding
41 authors.
Natalia Juliá-PalaciosDepartment of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.ORCID https://orcid.org/0000-0002-2560-3970
Gerard Muñoz-PujolBiochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.ORCID https://orcid.org/0000-0001-6763-1542
Aida M Bertoli-AvellaMedical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.
Marta Gómez-ChiariDepartment of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Jordi Muchart-LópezDepartment of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Abraham J Paredes-FuentesBiochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.
Mar O'CallaghanDepartment of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Irene S Machado-CasasNeuropediatrics and Neurodevelopment Unit, Hospital Universitario Clínico San Cecilio, 18007 Granada, Spain.
Ingrid CristianDivision of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.
Jennifer MorrisonDivision of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.
Angels Garcia-CazorlaDepartment of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Anna CodinaApplied Research in Neuromuscular Diseases, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Mohammad MiryounesiDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 1985717413 Tehran, Iran.
Emir ZonicMedical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.
Peter BauerMedical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.
Huma CheemaPediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.
Muhammad Nadeem AnjumPediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.
Nouriya Al-SannaaJohns Hopkins Aramco Health Care, 34465 Dhahran, Saudi Arabia.
Marwa Abd ElmaksoudDepartment of Pediatrics, Neurology Unit, Faculty of Medicine, Alexandria University, 21526 Alexandria, Egypt.
Faroug AbabnehDepartment of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, 11481 Riyadh, Saudi Arabia.
Sahar AlijanpourDepartment of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, 3149969415 Karaj, Iran.
Seyed Hassan TonekaboniDepartment of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468 Tehran, Iran.
Afshin FayaziDepartment of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, 6517838678 Hamadan, Iran.
Maria UrbaniakDepartment of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Uxía BarbaDepartment of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Janet HoenickaCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.
Francesc PalauCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.ORCID https://orcid.org/0000-0002-2866-7777
Juan Darío Ortigoza-EscobarDepartment of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.ORCID https://orcid.org/0000-0002-6320-2641
Antonia RibesBiochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.
Carlos Santos-OcañaCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.ORCID https://orcid.org/0000-0002-2379-796X
Millie TylerCardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.
Patrick GaffneyGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Christopher J CarrollCardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.ORCID https://orcid.org/0000-0002-2814-6955
Frederic TortBiochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.
Klaas J WierengaDepartment of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.
Bryn D WebbDepartment of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
Rafael ArtuchCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.ORCID https://orcid.org/0000-0002-3422-9685
Heidy Baide-MairenaDepartment of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.
Roser UrreiztiCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.
Funding
No grant is acknowledged in the PubMed record.
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
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brain MRIclinical delineationCTR1 modellingfunctional validation
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.