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Heterozygous mutant mice demonstrate behavioural, neuroanatomical and electrophysiological abnormalities. Lethal convulsive seizures are observed beginning at postnatal Day 17. As adults, heterozygotes display abundant and prolonged runs of spike-wave discharges (SWD) that often persist for minutes. The SWD epochs consist of different populations, differentiated by frequency and association with time-locked behavioural arrest.<\/jats:p>\n                  <jats:p>V664I mutant neurons have enlarged presynaptic terminals and increased synaptic distance. Functional analysis reveals increased inhibitory synaptic activity without changes in NMDAR decay kinetics or presynaptic plasticity in CA1 neurons, and analysis of hippocampal local field potentials shows a 1.5-fold increase in evoked responses and a 1.7-fold increase in action potential generation. Notably, expression of V664I in GABAergic interneurons, but not excitatory forebrain neurons, is sufficient to recapitulate the severe electroclinical phenotype.<\/jats:p>\n                  <jats:p>Altogether, our studies show that altered NMDAR function in inhibitory neurons plays a prominent role in DEE associated with GRIN2D GoF variants, suggesting that targeted genetic treatment may represent a path forward to successful therapeutic intervention.<\/jats:p>","DOI":"10.1093\/brain\/awaf125","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T08:44:41Z","timestamp":1744101881000},"page":"3973-3988","source":"Crossref","is-referenced-by-count":7,"title":["Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy"],"prefix":"10.1093","volume":"148","author":[{"given":"JiaJie","family":"Teoh","sequence":"first","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Simko","sequence":"additional","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad R","family":"Camp","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine , Atlanta, GA 30322 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine J","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neuroscience, Columbia University , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanqi","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Genetics and Development, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damian J","family":"Williams","sequence":"additional","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Ma","sequence":"additional","affiliation":[{"name":"Center for Translational Research in Neurodevelopmental Disease in the Department of Neurology, Columbia University Irving Medical Center , New York, NY 10032 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Elena","family":"Pero","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II , Naples 80137 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bartolini","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa C","family":"Swayne","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Irving Medical Center , New York, NY 10032 ,","place":["USA"]},{"name":"Confocal and Specialized Microscopy Shared Resource, Herbert Irving Comprehensive Cancer Center, Columbia University Irving 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