Your browser doesn't support javascript.
loading
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom, Nathan L; Liao, Vivian W Y; Johannesen, Katrine M H; Gardella, Elena; Jacobs, Julia; Lesca, Gaetan; Gokce-Samar, Zeynep; Arzimanoglou, Alexis; Zeidler, Shimriet; Striano, Pasquale; Meyer, Pierre; Benkel-Herrenbrueck, Ira; Mero, Inger-Lise; Rummel, Jutta; Chebib, Mary; Møller, Rikke S; Ahring, Philip K.
Afiliação
  • Absalom NL; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Liao VWY; School of Science, Western Sydney University, Sydney, NSW, Australia.
  • Johannesen KMH; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Gardella E; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Jacobs J; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Lesca G; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Gokce-Samar Z; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Arzimanoglou A; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Freiburg, Germany.
  • Zeidler S; Department of Paediatrics and Department of Neuroscience, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Striano P; Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
  • Meyer P; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
  • Benkel-Herrenbrueck I; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
  • Mero IL; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
  • Rummel J; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
  • Chebib M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Møller RS; IRCCS Institute "Giannina Gaslini", Genova, Italy.
  • Ahring PK; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Nat Commun ; 13(1): 1822, 2022 04 05.
Article em En | MEDLINE | ID: mdl-35383156
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de GABA-A / Epilepsia / Mutação com Ganho de Função / Mutação com Perda de Função Limite: Humans 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: Receptores de GABA-A / Epilepsia / Mutação com Ganho de Função / Mutação com Perda de Função Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article