Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund
JM Graglia, AJ Harding… - Therapeutic Advances in …, 2025 - journals.sagepub.com
SYNGAP1-related disorder (SRD) is a developmental and epileptic encephalopathy caused
by a disruption of the SYNGAP1 gene. At the beginning of 2024, it is one of many rare …
by a disruption of the SYNGAP1 gene. At the beginning of 2024, it is one of many rare …
Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction
A Jimenez-Gomez, MX Nguyen, JS Gill - Frontiers in Psychiatry, 2024 - frontiersin.org
Autism spectrum disorders represent a diverse etiological spectrum that converge on a
syndrome characterized by discrepant deficits in developmental domains often highlighted …
syndrome characterized by discrepant deficits in developmental domains often highlighted …
Allosteric competition and inhibition in AMPA receptors
WD Hale, A Montaño Romero, CU Gonzalez… - Nature Structural & …, 2024 - nature.com
Excitatory neurotransmission is principally mediated by α-amino-3-hydroxy-5-methyl-4-
isoxazolepropionic acid (AMPA)-subtype ionotropic glutamate receptors (AMPARs) …
isoxazolepropionic acid (AMPA)-subtype ionotropic glutamate receptors (AMPARs) …
Genotype–Phenotype Correlations in SYNGAP1‐Related Mental Retardation Type 5
L Hong, Q Yuan - Clinical Genetics, 2024 - Wiley Online Library
Variants in the SYNGAP1 gene leading to decreased SynGAP protein expression are critical
for the pathogenesis of mental retardation type 5 (MRD5). This study aims to explore the …
for the pathogenesis of mental retardation type 5 (MRD5). This study aims to explore the …