Associated Papers
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 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
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah H et al.
Genes, 2022
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.
Yang Y et al.
Frontiers in Molecular Neuroscience, 2022
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 2018
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