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

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

doi:10.1038/s41467-022-29280-x

Public

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

Published in Nature Communications • Apr 5, 2022

Authors:

Nathan L. Absalom

Vivian W. Y. Liao

Katrine M. Johannesen

Abstract

Abstract 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 divers...

Subject

Epilepsy

Loss function

GABAergic

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!