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
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
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
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