Article

Context-dependent NMDA receptor dysfunction predicts seizure treatment in mice with human GluN1 variant

2024-11-01

Abstract excerpt

<h4>Summary</h4> Mutations in N-Methyl D-Aspartate receptors (NMDARs) cause epilepsy and profound cognitive impairment, though the underlying subunit-specific vulnerabilities remain unclear. We investigate the impact of a severe human variant in the lurcher motif of obligate GluN1 NMDAR subunit using transgenic mice, leveraging context-specific dysfunction to devise a surprising treatment. We show that the GluN1...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 97d39699-fc5e-533b-aa05-fb70b4d6f847
DOI: 10.1101/2024.11.01.619946

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Context-dependent NMDA receptor dysfunction predicts seizure treatment in mice with human GluN1 variantDOI 10.1101/2024.11.01.619946Read

An integrated approach to evaluate the functional effects of disease-associated NMDA receptor variantsSemantic proximity Read

The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors.Semantic proximity Read

Complex functional phenotypes of NMDA receptor disease variantsSemantic proximity Read

The paradoxical effects of K <sup>+</sup> channel gain-of-function are mediated by GABAergic neuron hypoexcitability and hyperconnectivitySemantic proximity Read

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.Semantic proximity Read

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2ASemantic proximity Read

Modeling and treating <i>GRIN2A</i> developmental and epileptic encephalopathy in miceSemantic proximity Read

Complex functional phenotypes of NMDA receptor disease variants.Semantic proximity Read

Complex functional phenotypes of NMDA receptor disease variantsSemantic proximity Read

Independent regulation of early trafficking of NMDA receptors by ligand-binding domains of the GluN1 and GluN2A subunitsSemantic proximity Read

Altered GluN2A levels reduce the emergence of seizure-like events in a rat model of <i>GRIN2A</i> haploinsufficiencySemantic proximity Read

Excess glutamate release triggers subunit-specific homeostatic receptor scalingSemantic proximity Read