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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

Crossref DOI link: https://doi.org/10.1038/s41467-022-29280-x

Published Online: 2022-04-05

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Absalom, Nathan L. http://orcid.org/0000-0002-6084-5991
Liao, Vivian W. Y. http://orcid.org/0000-0001-8608-0563
Johannesen, Katrine M. H. http://orcid.org/0000-0002-7356-3109
Gardella, Elena http://orcid.org/0000-0002-7138-6022
Jacobs, Julia

Lesca, Gaetan http://orcid.org/0000-0001-7691-9492
Gokce-Samar, Zeynep

Arzimanoglou, Alexis http://orcid.org/0000-0002-7233-2771
Zeidler, Shimriet

Striano, Pasquale http://orcid.org/0000-0002-6065-1476
Meyer, Pierre http://orcid.org/0000-0001-5710-7376
Benkel-Herrenbrueck, Ira

Mero, Inger-Lise

Rummel, Jutta

Chebib, Mary

Møller, Rikke S. http://orcid.org/0000-0002-9664-1448
Ahring, Philip K. http://orcid.org/0000-0003-1807-3331
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Text and Data Mining valid from 2022-04-05

Version of Record valid from 2022-04-05
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Article History

Received: 1 October 2021

Accepted: 8 March 2022

First Online: 5 April 2022

Competing interests

: The authors declare no competing interests.

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