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Early mortality in STXBP1-related disorders.

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Title: Early mortality in STXBP1-related disorders.
Authors: Furia F; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Rigby CS; STXBP1 Foundation, Holly Springs, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Allen N; Department of Paediatrics, University of Galway, Galway, Ireland., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, U.K., Hengsbach C; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tubingen, Tubingen, Germany., Kegele J; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tubingen, Tubingen, Germany., Goss J; STXBP1 Foundation, Holly Springs, USA., Gorman K; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mala MI; Department of Human Genetics, Clinical Genetics Section, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam UMC, Amsterdam, Netherlands., Nicita F; Unit of Neuromuscolar and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Allan T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Spalice A; Department of Maternal Sciences, Pediatric Division, Sapienza University, Rome, Italy., Weber Y; Department of Epileptology, Neurology, University RWTH Aachen, Aachen, Germany., Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Department of Neurology, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark. elga@filadelfia.dk.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark. elga@filadelfia.dk.; Department of Neurophysiology, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark. elga@filadelfia.dk.
Corporate Authors: European STXBP1 consortium (ESCO), STXBP1 foundation
Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Mar; Vol. 46 (3), pp. 1339-1347. Date of Electronic Publication: 2024 Oct 11.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Early mortality in STXBP1-related disorders.
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  Data: <searchLink fieldCode="AU" term="%22Furia+F%22">Furia F</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Rigby+CS%22">Rigby CS</searchLink>; STXBP1 Foundation, Holly Springs, USA.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Allen+N%22">Allen N</searchLink>; Department of Paediatrics, University of Galway, Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Baker+K%22">Baker K</searchLink>; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Hengsbach+C%22">Hengsbach C</searchLink>; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tubingen, Tubingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kegele+J%22">Kegele J</searchLink>; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tubingen, Tubingen, Germany.<br /><searchLink fieldCode="AU" term="%22Goss+J%22">Goss J</searchLink>; STXBP1 Foundation, Holly Springs, USA.<br /><searchLink fieldCode="AU" term="%22Gorman+K%22">Gorman K</searchLink>; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Mala+MI%22">Mala MI</searchLink>; Department of Human Genetics, Clinical Genetics Section, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Functional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam UMC, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Neuromuscolar and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Allan+T%22">Allan T</searchLink>; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Spalice+A%22">Spalice A</searchLink>; Department of Maternal Sciences, Pediatric Division, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Weber+Y%22">Weber Y</searchLink>; Department of Epileptology, Neurology, University RWTH Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Rubboli+G%22">Rubboli G</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Department of Neurology, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Gardella+E%22">Gardella E</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark. elga@filadelfia.dk.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark. elga@filadelfia.dk.; Department of Neurophysiology, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark. elga@filadelfia.dk.
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  Data: <searchLink fieldCode="CA" term="%22European+STXBP1+consortium+%28ESCO%29%22">European STXBP1 consortium (ESCO)</searchLink><br /><searchLink fieldCode="CA" term="%22STXBP1+foundation%22">STXBP1 foundation</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22100959175%22">Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology</searchLink> [Neurol Sci] 2025 Mar; Vol. 46 (3), pp. 1339-1347. <i>Date of Electronic Publication: </i>2024 Oct 11.
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