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

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.

doi:10.1038/s41467-022-29280-x

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 clin…