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Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

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Title: Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Authors: Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. adam.jackson@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. adam.jackson@manchester.ac.uk., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia., Henry OJ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Delgado-Vega AM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Wall E; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Abdelhadi O; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Agrawal S; Birmingham Children's Hospital, Birmingham, UK., Bakur K; Lifera Omics, Riyadh, Saudi Arabia., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Brady AF; North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Northwick Park Hospital, London, UK.; Imperial College London, London, UK., Brittain H; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Chandler KE; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Clarke N; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK., Danelli M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Drinkall N; Central and South Genomic Laboratory Hub, West Midlands Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Duba I; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Elmslie F; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK., Ellingford J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Genomics England, London, UK., Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Genomics and Inherited Diseases Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Fennell AP; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia., Gazdagh G; Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Heller SP; Neurology Department, King's College Hospital, Denmark Hill, London, UK., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Karrman K; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Macintosh R; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Mansour S; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.; Cardiovascular and Genomics Research Institute, City St George's University of London, London, UK., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Department of Genomics and Genetic Medicine, University College London, London, UK., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Milhench A; Gloucestershire Hospitals NHS Foundation Trust, Cheltenham, UK., Nashef L; Neurology Department, King's College Hospital, Denmark Hill, London, UK., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Pacheco NP; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Parida A; Birmingham Children's Hospital, Birmingham, UK., Prescott K; Leeds Clinical Genomics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Redman M; Leeds Clinical Genomics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Fallerini C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sisodiya SM; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont Saint Peter, UK., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stödberg T; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden., Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Taylan F; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Tinella F; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Wiafe S; Rare Disease Ghana Initiative, Accra, Ghana.; Fred N Binkah School of Public Health, University of Health and Allied Sciences, Ho, Ghana.; Ga East Municipal Hospital, Ghana Health Services, Accra, Ghana., Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Walker S; Genomics England, London, UK., Rius R; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Alkuraya F; Lifera Omics, Riyadh, Saudi Arabia.; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Lord J; Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.
Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 798-809. Date of Electronic Publication: 2026 Mar 30.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Jackson+A%22">Jackson A</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. adam.jackson@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. adam.jackson@manchester.ac.uk.<br /><searchLink fieldCode="AU" term="%22Blakes+AJM%22">Blakes AJM</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Alhaddad+B%22">Alhaddad B</searchLink>; Lifera Omics, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Henry+OJ%22">Henry OJ</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Delgado-Vega+AM%22">Delgado-Vega AM</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Wall+E%22">Wall E</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Abdelhadi+O%22">Abdelhadi O</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Agrawal+S%22">Agrawal S</searchLink>; 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South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.<br /><searchLink fieldCode="AU" term="%22Ellingford+J%22">Ellingford J</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Ewans+LJ%22">Ewans LJ</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Genomics and Inherited Diseases Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Fennell+AP%22">Fennell AP</searchLink>; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Medicine, School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Gazdagh+G%22">Gazdagh G</searchLink>; Wessex Clinical Genetic Service, University Hospital Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Heller+SP%22">Heller SP</searchLink>; Neurology Department, King's College Hospital, Denmark Hill, London, UK.<br /><searchLink fieldCode="AU" term="%22Hammarsjö+A%22">Hammarsjö A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Karrman+K%22">Karrman K</searchLink>; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Kini+U%22">Kini U</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Lesko+N%22">Lesko N</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Macintosh+R%22">Macintosh R</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Mansour+S%22">Mansour S</searchLink>; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.; Cardiovascular and Genomics Research Institute, City St George's University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Menzies+L%22">Menzies L</searchLink>; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Department of Genomics and Genetic Medicine, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Metcalfe+K%22">Metcalfe K</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Milhench+A%22">Milhench A</searchLink>; Gloucestershire Hospitals NHS Foundation Trust, Cheltenham, UK.<br /><searchLink fieldCode="AU" term="%22Nashef+L%22">Nashef L</searchLink>; Neurology Department, King's College Hospital, Denmark Hill, London, UK.<br /><searchLink fieldCode="AU" term="%22O'Keefe+RT%22">O'Keefe RT</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Pacheco+NP%22">Pacheco NP</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Palmer+EE%22">Palmer EE</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Parida+A%22">Parida A</searchLink>; 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Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Sachdev+R%22">Sachdev R</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Simons+C%22">Simons C</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont Saint Peter, UK.<br /><searchLink fieldCode="AU" term="%22Stewart+H%22">Stewart H</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Stödberg+T%22">Stödberg T</searchLink>; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Banos-Pinero+B%22">Banos-Pinero B</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Taylan+F%22">Taylan F</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Thomas+HB%22">Thomas HB</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Tinella+F%22">Tinella F</searchLink>; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Wiafe+S%22">Wiafe S</searchLink>; Rare Disease Ghana Initiative, Accra, Ghana.; Fred N Binkah School of Public Health, University of Health and Allied Sciences, Ho, Ghana.; Ga East Municipal Hospital, Ghana Health Services, Accra, Ghana.<br /><searchLink fieldCode="AU" term="%22Wedell+A%22">Wedell A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Rius+R%22">Rius R</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Alkuraya+F%22">Alkuraya F</searchLink>; Lifera Omics, Riyadh, Saudi Arabia.; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 798-809. <i>Date of Electronic Publication: </i>2026 Mar 30.
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      – TitleFull: Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
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            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1546-1718
          Numbering:
            – Type: volume
              Value: 58
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Nature genetics
              Type: main
ResultId 1