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LIAO , Vivian W Y

Last name: LIAO

First name: Vivian W Y

2022 (v1)

Publication

Metadata-only

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

Genetic variants of gamma-aminobutyric acid (GABA(A)) receptors are associated with early onset epilepsies. Here, the authors show that functional loss or gain-of-function defines clinical outcomes, with gain-of-function variants unexpectedly more severe.Many patients with developmental and epileptic encephalopathies present with variants in...

Uploaded on: February 7, 2024