Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Nathan L. Absalom, Vivian W.Y. Liao, Katrine M.H. Johannesen, Elena Gardella, Julia Jacobs, Gaetan Lesca, Zeynep Gokce-Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller^*, Philip K. Ahring^*

^*Corresponding author for this work

Department of Regional Health Research
IRS - The Epilepsyhospital Filadelfia, Research Unit of Epilepsy Genetics and Personalized Medicine (Dianalund)

The University of Sydney
Western Sydney University
University Medical Center Freiburg
Cumming School of Medicine
University of Calgary
University Hospitals of Lyon
Erasmus University Medical Center Rotterdam
Giannina Gaslini Institute
University of Genoa
Université de Montpellier – Université Paul Valéry – EPHE
Heinrich Heine University Düsseldorf
Oslo University Hospital
University of Lyon

Research output: Contribution to journal › Journal article › Research › peer-review

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

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Medicine & Life Sciences

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