Associated Papers
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.
Zhu X et al.
Journal of Child Neurology, 2024
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Lin SXN et al.
Brain : a Journal of Neurology, 2024
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y et al.
Journal of Neurology, 2022
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL et al.
Nature Communications, 2022
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