Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology

Title: Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology. Authors and affiliations: Nour Elkhateeb 1,2 , Giorgia Olivieri 3 , Barbara Siri 3 , Karolina M. Stepien 4 , Reena Sharma 4 , Andrew Morris 5 , Thomas Hartley 5 , Laura Crowther 5 , Stephanie Grunewald 1 , Maureen Cleary 1 , Helen Mundy 6 , Anupam Chakrapani 1 , Robin Lachmann 7 , Elaine Murphy 7 , Saikat Santra 8 , Mari-Liis Uudelepp 1 , Mildrid Yeo 1 , Alicia Chan 9 , Philippa Mills 10 , Debora Ridout 10 , Paul Gissen 1,10,11 , Carlo Dionisi-Vici 3 , Julien Baruteau 1,10,11 . 1 Great Ormond Street Hospital for Children NHS Trust, London, UK 2 Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK 3 Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy 4 Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK. 5 Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK. 6 Evelina London Children's Hospital; St Thomas's Hospital, London, UK. 7 Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. 8 Clinical IMD, Birmingham Children's Hospital, Birmingham, UK 9 University of Alberta, Edmonton, Alberta, Canada 10 Great Ormond Street Institute of Child Health, London, UK 11 National Institute of Health Research Great Ormond Street Biomedical Research Centre, London UK. Corresponding author: Julien Baruteau Corresponding author email: [email protected] All rights reserved. No reuse allowed without permission. perpetuity. preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in The copyright holder for this this version posted October 21, 2022. ; https://doi.org/10.1101/2022.10.19.22281191 doi: medRxiv preprint NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology

Others