Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Autor: Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, O’Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Wright, Thomas, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry

Publikováno v: In Genetics in Medicine January 2023 25(1):76-89

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Autor: Morsy H; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. Electronic address: heba.morsy@ucl.ac.uk., Benkirane M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Cali E; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Rocca C; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Zhelcheska K; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Cipriani V; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Galanaki E; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Maroofian R; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Wright T; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Redman M; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Bassetti JA; Department of Pediatrics, Weill Cornell Medicine, New York, NY., Nizon M; Thorax Institute, Nantes University, CNRS, INSERM, Nantes, France., Cogne B; Thorax Institute, Nantes University, CNRS, INSERM, Nantes, France; Department of Medical Genetics, Nantes University Hospital, Nantes, France., Jamra RA; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Bartolomaeus T; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Heruth M; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Gburek-Augustat J; Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany., Gattermann F; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany., Mcentagart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Goldenberg A; Department of Medical Genetics, Rouen University Hospital, Rouen, France., Guyant-Marechal L; Department of Pediatric Neurology, Marseille University Hospital, Marseille, France., Garcia-Moreno H; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom., Giunti P; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom., Chabrol B; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Marseille, France., Bacrot S; Department of Molecular Genetics, Versailles Hospital, Versailles, France., Buissonnière R; Department of Pediatrics, Versailles Hospital, Versailles, France., Magry V; Department of Molecular Genetics, Amiens-Picardie University Hospital, Amiens, France., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Melegh B; Department of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary., Szabó A; Department of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary., Sümegi K; Department of Biochemistry and Medical Chemistry, Medical School, University of Pécs, Pécs, Hungary., Cossée M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Ziff M; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Butterfield R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, University of Utah Health, Salt Lake City, UT., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kigngdom., Bird-Lieberman G; Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Hanna M; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Koenig M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Stankewich M; Department of Pathology, Yale School of Medicine, New Haven, CT., Vandrovcova J; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 76-89. Date of Electronic Publication: 2022 Nov 04.