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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/30390
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dc.contributor.authorBrunklaus, Andreas-
dc.contributor.authorBrünger, Tobias-
dc.contributor.authorFeng, Tony-
dc.contributor.authorFons, Carmen-
dc.contributor.authorLehikoinen, Anni-
dc.contributor.authorPanagiotakaki, Eleni-
dc.contributor.authorVintan, Mihaela-Adela-
dc.contributor.authorSymonds, Joseph-
dc.contributor.authorAndrew, James-
dc.contributor.authorArzimanoglou, Alexis-
dc.contributor.authorDelima, Sarah-
dc.contributor.authorGallois, Julie-
dc.contributor.authorHanrahan, Donncha-
dc.contributor.authorLesca, Gaetan-
dc.contributor.authorMacLeod, Stewart-
dc.contributor.authorMarjanovic, Dragan-
dc.contributor.authorMcTague, Amy-
dc.contributor.authorNuñez-Enamorado, Noemi-
dc.contributor.authorPerez-Palma, Eduardo-
dc.contributor.authorScott Perry, M-
dc.contributor.authorPysden, Karen-
dc.contributor.authorRuss-Hall, Sophie J-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorSully, Krystal-
dc.contributor.authorSyrbe, Steffen-
dc.contributor.authorVaher, Ulvi-
dc.contributor.authorVelayutham, Murugan-
dc.contributor.authorVogt, Julie-
dc.contributor.authorWeiss, Shelly-
dc.contributor.authorWirrell, Elaine-
dc.contributor.authorZuberi, Sameer M-
dc.contributor.authorLal, Dennis-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorMantegazza, Massimo-
dc.contributor.authorCestèle, Sandrine-
dc.date2022-
dc.date.accessioned2022-06-23T00:40:40Z-
dc.date.available2022-06-23T00:40:40Z-
dc.date.issued2022-06-13-
dc.identifier.citationBrain: a Journal of Neurology 2022; 145(11)en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/30390-
dc.language.isoeng-
dc.subjectSCN1Aen
dc.subjectarthrogryposisen
dc.subjectepilepsyen
dc.subjectgain of functionen
dc.subjectmovement disorderen
dc.titleThe gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.en
dc.typeJournal Articleen
dc.identifier.journaltitleBrain : a journal of neurologyen
dc.identifier.affiliationMurdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia..en
dc.identifier.affiliationThe Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK..en
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Healthen
dc.identifier.affiliationCologne Center for Genomics, University of Cologne, Cologne, Germany..en
dc.identifier.affiliationInstitute of Health and Wellbeing, University of Glasgow, UK..en
dc.identifier.affiliationPediatric Neurology Department. CIBERER-ISCIII. Sant Joan de Déu Universitary Hospital. Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona  Spain..en
dc.identifier.affiliationPediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE, Kuopio, Finland..en
dc.identifier.affiliationDepartment of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL) and Inserm U1028/CNRS UMR5292, Lyon, France..en
dc.identifier.affiliation'Iuliu Hatieganu' University of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology and Pediatric Neurology, Victor Babes, 43, 400012, Cluj-Napoca, Cluj, Romania..en
dc.identifier.affiliationIndiana University School of Medicine, IU Health Riley Hospital for Children, Department of Neurology, Division of Pediatric Neurology, Indianapolis, Indiana, USA..en
dc.identifier.affiliationLouisiana State University Health Sciences Center School of Medicine. New Orleans, Louisiana, USA..en
dc.identifier.affiliationDepartment of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK..en
dc.identifier.affiliationDepartment of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE, Université Claude Bernard Lyon 1, Lyon, France..en
dc.identifier.affiliationThe Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark..en
dc.identifier.affiliationDevelopmental Neurosciences, UCL Great Ormond Street Institute of Child Health, UK..en
dc.identifier.affiliationPediatric Neurology Department. 12 Octubre Universitary Hospital, Madrid, Spain..en
dc.identifier.affiliationUniversidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile..en
dc.identifier.affiliationJane and John Justin Neurosciences Center, Cook Children's Medical Center, Ft Worth, TX, USA..en
dc.identifier.affiliationPaediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, UK..en
dc.identifier.affiliationBaylor College of Medicine. Houston, Texas, USA..en
dc.identifier.affiliationDivision of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany..en
dc.identifier.affiliationChildren's Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of the ERN EpiCARE, Tartu, Estonia..en
dc.identifier.affiliationBirmingham Children's Hospital, Birmingham, UK..en
dc.identifier.affiliationWest Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK..en
dc.identifier.affiliationDivision of Neurology, SickKids, University of Toronto, Toronto, Canada..en
dc.identifier.affiliationDivisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester MN, USA..en
dc.identifier.affiliationUniversité Cote d'Azur, 06560 Valbonne-Sophia Antipolis, France..en
dc.identifier.affiliationCNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France..en
dc.identifier.affiliationInserm, 06560 Valbonne-Sophia Antipolis, France..en
dc.identifier.affiliationDepartment of Regional Health Research, University of Southern Denmark, Odense, Denmark..en
dc.identifier.affiliationGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, USA..en
dc.identifier.affiliationEpilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, USA..en
dc.identifier.affiliationStanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA..en
dc.identifier.affiliationTexas Children's Hospital. Houston, Texas, USA..en
dc.identifier.affiliationDepartment of Neurology, Great Ormond Street Hospital for Children, Member of the ERN EpiCARE, UK..en
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/35696452/en
dc.identifier.doi10.1093/brain/awac210en
dc.type.contentTexten
dc.identifier.orcid0000-0002-7728-6903en
dc.identifier.orcid0000-0002-2141-4216en
dc.identifier.orcid0000-0002-4489-4697en
dc.identifier.orcid0000-0002-1070-7929en
dc.identifier.orcid0000-0002-4809-9340en
dc.identifier.orcid0000-0002-2311-2174en
dc.identifier.pubmedid35696452-
local.name.researcherScheffer, Ingrid E
item.grantfulltextnone-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
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