Early mortality in STXBP1-related disorders.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1590-3478 |
|---|---|
| DOI: | 10.1007/s10072-024-07783-3 |
