Associated Papers
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
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY et al.
Epilepsia, 2022
35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1
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
35383156 (PubMed )
Supplement: 41467_2022_29280_MOESM1_ESM.pdf
The epilepsy-movement disorder phenotypic spectrum and phenytoin-induced dyskinesia associated with GABRB3 pathogenic variants.
Marefi A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS et al.
Neurology, 2017
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