<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, +72

Journal of Medical Genetics

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

Sharon A. Swanger, Wenjuan Chen, Gordon Wells, +12

The American Journal of Human Genetics

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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González, +21

The American Journal of Human Genetics

NeurophysiologyExperimental NeuropathologyNeuropharmacologyNeurologyNeuroscience +4

Sensory integration and neuromodulatory feedback facilitate Drosophila mechanonociceptive behavior

Chun Hu, Meike Petersen, Nina Hoyer, +9

Nature Neuroscience

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A functional role of <scp>NMDA</scp> receptor in regulating the differentiation of oligodendrocyte precursor cells and remyelination

Cui Li, Lin Xiao, Xiuyun Liu, +5

Glia

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

Kevin K. Ogden, Wenjuan Chen, Sharon A. Swanger, +15

PLoS Genetics

Brain DevelopmentDifferent SubunitsNeurotransmitterMolecular BiologyMutant Subunits +17

Dynamic regulation of <i>Drosophila</i> nuclear receptor activity in vivo

Laura Palanker, Aleksandar Necakov, Heidi M. Sampson, +4

Development

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, +38

Brain

NeurogenomicsBrain DevelopmentGeneticsPathologyMolecular Genetics +16

A neuropeptidergic circuit gates selective escape behavior of Drosophila larvae

Bibi Nusreen Imambocus, Fangmin Zhou, A. Formozov, +15

Current Biology

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Glioblastoma mutations alter EGFR dimer structure to prevent ligand bias

Chun Hu, Carlos A. Leche, Anatoly Kiyatkin, +4

Nature

Ligand BiasGliomaMedicineHigh-grade GliomasCancer Genetics +4