Associated Papers
Pathological gain-of-function human variants in the GRIK2 kainate receptor gene cause wide-ranging behavioral dysfunction and seizures in mouse models.
Webb BT et al.
Neurobiology of Disease, 2026
Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.
Chen CM et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
A Pathogenic Missense Mutation in Kainate Receptors Elevates Dendritic Excitability and Synaptic Integration through Dysregulation of SK Channels.
Nomura T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.
Hu TM et al.
Journal of Personalized Medicine, 2022
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR et al.
American Journal of Human Genetics, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR et al.
American Journal of Human Genetics, 2021
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.
Guzmán YF et al.
Neurology. Genetics, 2017
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