Your browser doesn't support javascript.
loading
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki, Géza; Howell, Katherine B; Heighway, Jacqueline; Olivier, Nelson; Rodda, Jill; Overmars, Isabella; Vlaskamp, Danique R M; Ware, Tyson L; Ardern-Holmes, Simone; Lesca, Gaetan; Alber, Michael; Veggiotti, Pierangelo; Scheffer, Ingrid E; Berkovic, Samuel F; Wolff, Markus; Petrou, Steven.
Afiliação
  • Berecki G; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. geza.berecki@florey.edu.au.
  • Howell KB; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.
  • Heighway J; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.
  • Olivier N; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.
  • Rodda J; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Overmars I; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.
  • Vlaskamp DRM; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA.
  • Ware TL; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Ardern-Holmes S; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Lesca G; Departments of Neurology and Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Alber M; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS, 7000, Australia.
  • Veggiotti P; Department of Neurology, Children's Hospital Westmead, Sydney, NSW, Australia.
  • Scheffer IE; Service de Génétique, Hospices Civils de Lyon, 69002, Lyon, France.
  • Berkovic SF; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
  • Wolff M; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.
  • Petrou S; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.
Commun Biol ; 5(1): 515, 2022 05 30.
Article em En | MEDLINE | ID: mdl-35637276
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article