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
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.
Guzmán YF et al.
Neurology. Genetics, 2017
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