Tim A. Benke

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

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.

Selective Enhancement of the Interneuron Network and Gamma-Band Power via GluN2C/GluN2D NMDA Receptor Potentiation

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.

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

This paper describes a new mouse model of nonketotic hyperglycinemia with postnatal abnormalities in glycine levels, neural tube defects, body weight, electroencephalographic recordings, and activity, useful for evaluating new therapies.

Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology

The paper develops specific CDKL5 inhibitors that do not affect GSK3β activity and shows their effects on synaptic function and LTP in rat hippocampal slices.

Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons

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