Associated Papers
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C et al.
Brain : a Journal of Neurology, 2025
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA et al.
Ebiomedicine, 2024
38996765 (PubMed )
Supplement: mmc1.xlsx › In_silico_scores
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
GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
Hernandez CC et al.
Scientific Reports, 2017
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
Ishii A et al.
Journal of Medical Genetics, 2017
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of Neurology, 2016
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