Open access
Jun 2026
Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies.
A robust framework combining complementary experimental approaches with patient-derived preclinical models to link molecular dysfunctions to clinical phenotypes is established, highlighting the critical role of the GluN2B CTD in NMDA-R function and neuronal signaling.
Roza Szlendak, Nathalie Bouquier, Sylwia Rzońca-Niewczas et al.
· Translational Psychiatry · 0 citations