Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.
Hernandez CC et al.
Biomolecules, 2023
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
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM et al.
Annals of Neurology, 2021
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Yang Y et al.
Developmental Medicine and Child Neurology, 2020
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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