Description:

Kainate receptors are ionotropic glutamate receptors that modulate neuronal excitability and synaptic signaling. They also have been implicated in early developmental processes that include shaping appropriate neuronal connectivity and synaptic strength, but this aspect of their function remains to be elucidated to the same degree as their actions in mature CNS circuits. Understanding how kainate receptors shape brain development is a critical objective because children with variants in GRIK2, the gene encoding the GluK2 KAR subunit, suffer from a variety of neurodevelopmental disorders, without apparent neurodegeneration. The research I will discuss is centered on understanding how de novo mutations in kainate receptor genes lead to neurodevelopmental disorders.