Associated Papers
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.
Adamo-Croux M et al.
Epilepsia, 2025
40528577 (PubMed )
Supplement: EPI-66-e187-s002.xlsx › Feuil1
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.
Brabbing-Goldstein D et al.
Prenatal Diagnosis, 2024
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Sanchis-Juan A et al.
Molecular Genetics & Genomic Medicine, 2020
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Basel-Salmon L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Maljevic S et al.
Brain : a Journal of Neurology, 2019
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM et al.
Brain : a Journal of Neurology, 2018
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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