Associated Papers
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Johannesen KM et al.
The Journal of Clinical Investigation, 2026
Effects of GABAA Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling.
Syed P et al.
Frontiers in Molecular Neuroscience, 2020
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
27572814 (PubMed )
Supplement: kuperberg_supp.pdf
Select a paper to view details