Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapses

Abstract The synaptic protein Rabphilin 3A (Rph3A), encoded by the RPH3A gene, is a known binding partner of the NMDA receptor (NMDAR) complex, which is essential for synaptic plasticity and cognitive functions. A recent report demonstrated a causal association between missense variants in the RPH3A...

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Bibliographic Details
Published in:	Scientific Reports
Main Authors:	Marta Barzasi, Alessio Spinola, Alex Costa, Lisa Pavinato, Alfredo Brusco, Elena Marcello, Monica DiLuca, Fabrizio Gardoni
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-03-01
Subjects:	Epilepsy Excitatory synapse Neurodevelopmental disorders Rabphilin 3A RPH3A
Online Access:	https://doi.org/10.1038/s41598-025-93403-9

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