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Epilepsia|June 2, 2026
Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variantsCathrine E Gjerulfsen, Vivian W Y Liao, Tomasz S Mieszczanek, et al.
Ebiomedicine|August 3, 2026
Accurate prediction of gain- and loss-of-function missense variants in GABAA receptorsChristian M Boßelmann, Sebastian Ortiz, Rebekka Dahl, et al.
Brain Communications|February 15, 2021
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathiesNathan L Absalom, Vivian W Y Liao, Kavitha Kothur, et al.
Brain : a Journal of Neurology|October 11, 2021
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsyPhilip K Ahring, Vivian W Y Liao, Elena Gardella, et al.
Brain : a Journal of Neurology|April 22, 2026
Collapse of feed-forward inhibition underpins hyperexcitability in GABAA gain-of-function epilepsyChaseley E McKenzie, Khaing Phyu Aung, Altair Brito Dos Santos, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
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