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|Title:||The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.||Austin Authors:||Brunklaus, Andreas;Brünger, Tobias;Feng, Tony;Fons, Carmen;Lehikoinen, Anni;Panagiotakaki, Eleni;Vintan, Mihaela-Adela;Symonds, Joseph;Andrew, James;Arzimanoglou, Alexis;Delima, Sarah;Gallois, Julie;Hanrahan, Donncha;Lesca, Gaetan;MacLeod, Stewart;Marjanovic, Dragan;McTague, Amy;Nuñez-Enamorado, Noemi;Perez-Palma, Eduardo;Scott Perry, M;Pysden, Karen;Russ-Hall, Sophie J;Scheffer, Ingrid E ;Sully, Krystal;Syrbe, Steffen;Vaher, Ulvi;Velayutham, Murugan;Vogt, Julie;Weiss, Shelly;Wirrell, Elaine;Zuberi, Sameer M;Lal, Dennis;Møller, Rikke S;Mantegazza, Massimo;Cestèle, Sandrine||Affiliation:||Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia..
The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK..
Epilepsy Research Centre
The Florey Institute of Neuroscience and Mental Health
Cologne Center for Genomics, University of Cologne, Cologne, Germany..
Institute of Health and Wellbeing, University of Glasgow, UK..
Pediatric Neurology Department. CIBERER-ISCIII. Sant Joan de Déu Universitary Hospital. Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona Spain..
Pediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE, Kuopio, Finland..
Department 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..
'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..
Indiana University School of Medicine, IU Health Riley Hospital for Children, Department of Neurology, Division of Pediatric Neurology, Indianapolis, Indiana, USA..
Louisiana State University Health Sciences Center School of Medicine. New Orleans, Louisiana, USA..
Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK..
Department of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE, Université Claude Bernard Lyon 1, Lyon, France..
The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark..
Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, UK..
Pediatric Neurology Department. 12 Octubre Universitary Hospital, Madrid, Spain..
Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile..
Jane and John Justin Neurosciences Center, Cook Children's Medical Center, Ft Worth, TX, USA..
Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, UK..
Baylor College of Medicine. Houston, Texas, USA..
Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany..
Children's Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of the ERN EpiCARE, Tartu, Estonia..
Birmingham Children's Hospital, Birmingham, UK..
West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK..
Division of Neurology, SickKids, University of Toronto, Toronto, Canada..
Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester MN, USA..
Université Cote d'Azur, 06560 Valbonne-Sophia Antipolis, France..
CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France..
Inserm, 06560 Valbonne-Sophia Antipolis, France..
Department of Regional Health Research, University of Southern Denmark, Odense, Denmark..
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, USA..
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, USA..
Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA..
Texas Children's Hospital. Houston, Texas, USA..
Department of Neurology, Great Ormond Street Hospital for Children, Member of the ERN EpiCARE, UK..
|Issue Date:||13-Jun-2022||metadata.dc.date:||2022||Publication information:||Brain: a Journal of Neurology 2022; 145(11)||URI:||https://ahro.austin.org.au/austinjspui/handle/1/30390||DOI:||10.1093/brain/awac210||ORCID:||0000-0002-7728-6903
|Journal:||Brain : a journal of neurology||PubMed URL:||35696452||PubMed URL:||https://pubmed.ncbi.nlm.nih.gov/35696452/||Type:||Journal Article||Subjects:||SCN1A
gain of function
|Appears in Collections:||Journal articles|
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