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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
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
  • Brunklaus A; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
  • Brünger T; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.
  • Feng T; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Fons C; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
  • Lehikoinen A; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.
  • Panagiotakaki E; 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.
  • Vintan MA; Pediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE, Kuopio, Finland.
  • Symonds J; 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.
  • Andrew J; 'Iuliu Hatieganu' University of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology and Pediatric Neurology, Victor Babes, 43, 400012 Cluj-Napoca, Romania.
  • Arzimanoglou A; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
  • Delima S; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.
  • Gallois J; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.
  • Hanrahan D; 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.
  • Lesca G; 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.
  • MacLeod S; Indiana University School of Medicine, IU Health Riley Hospital for Children, Department of Neurology, Division of Pediatric Neurology, Indianapolis, IN, USA.
  • Marjanovic D; Louisiana State University Health Sciences Center School of Medicine, New Orleans, LA, USA.
  • McTague A; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Nuñez-Enamorado N; Department of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE, Université Claude Bernard Lyon 1, Lyon, France.
  • Perez-Palma E; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.
  • Scott Perry M; The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark.
  • Pysden K; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Russ-Hall SJ; Department of Neurology, Great Ormond Street Hospital for Children, Member of the ERN EpiCARE, London, UK.
  • Scheffer IE; Pediatric Neurology Department, 12 Octubre Universitary Hospital, Madrid, Spain.
  • Sully K; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.
  • Syrbe S; Jane and John Justin Neurosciences Center, Cook Children's Medical Center, Ft Worth, TX, USA.
  • Vaher U; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, UK.
  • Velayutham M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
  • Vogt J; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.
  • Weiss S; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
  • Wirrell E; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.
  • Zuberi SM; Baylor College of Medicine, Houston, TX, USA.
  • Lal D; Texas Children's Hospital, Houston, TX, USA.
  • Møller RS; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mantegazza M; Children's Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of the ERN EpiCARE, Tartu, Estonia.
  • Cestèle S; Birmingham Children's Hospital, Birmingham, UK.
Brain ; 145(11): 3816-3831, 2022 11 21.
Article in En | MEDLINE | ID: mdl-35696452
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Spasms, Infantile / Epilepsies, Myoclonic / Migraine with Aura / Epilepsy / Movement Disorders Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research Limits: Humans / Infant / Newborn Language: En Journal: Brain Year: 2022 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Spasms, Infantile / Epilepsies, Myoclonic / Migraine with Aura / Epilepsy / Movement Disorders Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research Limits: Humans / Infant / Newborn Language: En Journal: Brain Year: 2022 Type: Article Affiliation country: United kingdom