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Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Absalom, Nathan L; Liao, Vivian W Y; Kothur, Kavitha; Indurthi, Dinesh C; Bennetts, Bruce; Troedson, Christopher; Mohammad, Shekeeb S; Gupta, Sachin; McGregor, Iain S; Bowen, Michael T; Lederer, Damien; Mary, Sandrine; De Waele, Liesbeth; Jansen, Katrien; Gill, Deepak; Kurian, Manju A; McTague, Amy; Møller, Rikke S; Ahring, Philip K; Dale, Russell C; Chebib, Mary.
Afiliación
  • Absalom NL; Faculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Liao VWY; Faculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Kothur K; Kids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Indurthi DC; Faculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Bennetts B; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Troedson C; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Mohammad SS; Kids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Gupta S; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • McGregor IS; Faculty of Science, Lambert Initiative for Cannabinoid Therapeutics, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Bowen MT; Faculty of Science, Lambert Initiative for Cannabinoid Therapeutics, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Lederer D; Institute of Pathology and Genetics, Center for Human Genetics, Gosselies 6041, Belgium.
  • Mary S; Institute of Pathology and Genetics, Center for Human Genetics, Gosselies 6041, Belgium.
  • De Waele L; Department of Development and Regeneration, KULeuven, Leuven 3000, Belgium.
  • Jansen K; Department of Development and Regeneration, KULeuven, Leuven 3000, Belgium.
  • Gill D; Kids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Kurian MA; Molecular Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1E 6BT, UK.
  • McTague A; Molecular Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1E 6BT, UK.
  • Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
  • Ahring PK; Faculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
  • Dale RC; Kids Neuroscience Centre at The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia.
  • Chebib M; Faculty of Medicine and Health, School of Pharmacy, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.
Brain Commun ; 2(2): fcaa162, 2020.
Article en En | MEDLINE | ID: mdl-33585817
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Commun Año: 2020 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Commun Año: 2020 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido