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Nathalie Bouquier

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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. · 0 citations