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

Many patients with developmental and epileptic encephalopathies present with variants in genes coding for GABA(A) receptors. These variants are presumed to cause loss-of-function receptors leading to reduced neuronal GABAergic activity. Yet, patients with GABA(A) receptor variants have diverse clini...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8983652/
https://www.ncbi.nlm.nih.gov/pubmed/35383156
http://dx.doi.org/10.1038/s41467-022-29280-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8983652/
https://www.ncbi.nlm.nih.gov/pubmed/35383156
http://dx.doi.org/10.1038/s41467-022-29280-x

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