This research demonstrates that CaMKIIβ insufficiency increases seizure susceptibility in neurodevelopmental disorders, suggesting therapeutic targets.
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.
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Mutoh et al. (2026) studied this question.
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