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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

Nature Communications（2022）

Cited 43|Views35
Key words
Encephalopathy,Epilepsy,Science,Humanities and Social Sciences,multidisciplinary
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