Article
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Nature communications - 5 Apr 2022
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
Abstract excerpt
Many patients with developmental and epileptic encephalopathies present with variants in genes coding for GABAA receptors. These variants are presumed to cause loss-of-function receptors leading to reduced neuronal GABAergic activity. Yet, patients with GABAA receptor variants have diverse clinical phenotypes and many are refractory to treatment despite the availability of drugs that enhance GABAergic activity....
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