These findings suggest that CaMKIIβ insufficiency disrupts cortical excitatory-inhibitory balance, leading to the aberrant low-gamma oscillations and increased seizure susceptibility. Our findings establish a mechanistic link between CaMKIIβ deficiency and epilepsy-related phenotypes in neurodevelopmental disorders. The P213L variant represents a loss-of-function variant with reduced CaMKIIβ expression and phosphorylation, and provides a valuable model for investigating disease mechanisms and developing potential therapeutic strategies.
Mutoh et al. (Wed,) studied this question.