Associated Papers
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.
Adamo-Croux M et al.
Epilepsia, 2025
A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.
Yang L et al.
Annals of Clinical and Translational Neurology, 2025
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
36792598 (PubMed )
Supplement: 41467_2023_36606_MOESM4_ESM.xlsx › Supplementary_Data_1
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
Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Jenkins A et al.
Brain : a Journal of Neurology, 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
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