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Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

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Title: Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.
Authors: Gverdtsiteli S; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Ortiz S; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Brünger T; Department of Neurology, University of Texas Health Science Center at Houston, Houston, Texas, USA., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Barba C; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy., Bjørg-Hammer T; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark., Borggraefe I; Division of Pediatric Neurology, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany., Caraballo R; Department of Neurology, Hospital de Pediatría J. P. Garrahan, Buenos Aires, Argentina., Cirak S; Division of Pediatric Neurology, Metabolics, and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Ulm, Ulm, Germany., Espeche A; Department of Neurology, Hospital Púbico Materno Infantil, Salta, Argentina., Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany., Guerrini R; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy., Juanes M; Genomic Unit, Hospital de Pediatría J. P. Garrahan, Buenos Aires, Argentina., Kassahn K; Technology Advancement Unit, Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Kinali M; Department of Brain Sciences, Imperial College London, London, UK.; Portland Hospital HCA International, London, UK., Krämer J; Division of Pediatric Neurology, Metabolics, and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany., Kröll J; Social Pediatric Center, Hospital Foundation Constance, Constance, Germany., Herrero MCM; Department of Neuropediatrics, Gregorio Marañón General University Hospital, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Ounap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Peñuela O; Hospital Internacional de Colombia-Fundación Cardiovascular, Bucaramanga, Colombia., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Prasad AN; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Western University and Schulich School of Medicine and Dentistry, London, Ontario, Canada., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies, Barcelona, Spain., Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Represa A; INMED, INSERM, Aix-Marseille University, Marseille, France., Roza E; Department of Neuroscience, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.; Pediatric Neurology Department, 'Dr. Victor Gomoiu' Clinical Children's Hospital, Bucharest, Romania., Valenzuela GR; Department of Neurology, Hospital de Pediatría J. P. Garrahan, Buenos Aires, Argentina., Rodríguez-Palmero A; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Sallevelt S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Sanchez-Albiusa MI; Division of Neuropediatrics, Development, and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Scheffer IE; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Florey and Murdoch Children's Research Institutes, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Smid C; UW Health Waisman Genetics Clinics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Stafstrom CE; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stattin EL; Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden., Suarez JR; UW Health Waisman Genetics Clinics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Syrbe S; Clinic 1, Division of Pediatric Epileptology, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Heidelberg University, Heidelberg, Germany., Valente KD; University of São Paulo Medical School, São Paulo, Brazil.; Neuroscience Unit for Epilepsy and Neurodevelopmental Disorders, Clinical Hospital of the University of São Paulo Medical School, São Paulo, Brazil., Wagner M; Division of Pediatric Neurology, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Wortmann S; University Clinic for Pediatrics and Adolescent Medicine, Paracelsus Private Medical University, Salzburg, Austria., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark., Lal D; Department of Neurology, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Center for Neurogenetics, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Cologne Center for Genomics, Medical Faculty of the University of Cologne, Cologne, Germany., Brunklaus A; Royal Hospital for Children, Scottish Paediatric Epilepsy Network, Glasgow, UK., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
Source: Epilepsia [Epilepsia] 2026 Jul; Vol. 67 (7), pp. 3629-3643. Date of Electronic Publication: 2026 Apr 02.
Publication Type: Journal Article; Review
Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.
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  Data: <searchLink fieldCode="AU" term="%22Gverdtsiteli+S%22">Gverdtsiteli S</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Ortiz+S%22">Ortiz S</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Brünger+T%22">Brünger T</searchLink>; Department of Neurology, University of Texas Health Science Center at Houston, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Furia+F%22">Furia F</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Barba+C%22">Barba C</searchLink>; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Bjørg-Hammer+T%22">Bjørg-Hammer T</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Borggraefe+I%22">Borggraefe I</searchLink>; Division of Pediatric Neurology, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Caraballo+R%22">Caraballo R</searchLink>; Department of Neurology, Hospital de Pediatría J. 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Garrahan, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Cirak+S%22">Cirak S</searchLink>; Division of Pediatric Neurology, Metabolics, and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Espeche+A%22">Espeche A</searchLink>; Department of Neurology, Hospital Púbico Materno Infantil, Salta, Argentina.<br /><searchLink fieldCode="AU" term="%22Fazeli+W%22">Fazeli W</searchLink>; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Juanes+M%22">Juanes M</searchLink>; Genomic Unit, Hospital de Pediatría J. 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