Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons.
Arslan A et al.
Journal of Visualized Experiments : Jove, 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Pharmacological Research, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pathogenicity Prediction of GABAA Receptor Missense Variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.
Arslan A
Heliyon, 2023
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E et al.
Annals of Neurology, 2023
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.
Gjerulfsen CE et al.
Annals of Clinical and Translational Neurology, 2023
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants.
Wang YJ et al.
Biorxiv : the Preprint Server for Biology, 2023
De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects.
Liu WH et al.
Frontiers in Molecular Neuroscience, 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
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
Chen W et al.
International Journal of Molecular Sciences, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity.
Olivotto S et al.
Epilepsy & Behavior Reports, 2022
Clinical phenotype and genotype of children with GABAA receptor α1 subunit gene-related epilepsy.
Zhang L et al.
Frontiers in Neurology, 2022
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez CC et al.
Brain : a Journal of Neurology, 2019
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Janve VS et al.
Annals of Neurology, 2016
De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H et al.
Epilepsia, 2016
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL et al.
Neurology, 2014