Stephen F. Traynelis

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper shows that eGlyRs in hippocampal interneurons regulate network activity through developmental and evolutionary conserved mechanisms.

This paper describes a GluN2C/GluN2D-selective NMDA receptor modulator that enhances inhibitory interneuron activity and gamma-band power, with potential therapeutic applications for neuropsychiatric disorders.

This study investigates the effects of the GRIN1 Y647S variant in mice, showing that β-hydroxybutyrate reduces convulsions associated with the variant.

The paper identifies biological properties of ion channel residues associated with variant pathogenicity and links them to clinical phenotypes and functional assays.

This study shows that loss of Grin2a causes delayed electrophysiological maturation of hippocampal parvalbumin interneurons, leading to transient seizure susceptibility in mice.

This study models GRIN2A-related DEE in mice, identifies seizure and behavioral abnormalities, and evaluates treatment strategies.