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Updated: Nov 11, 2025

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
Published on: May 12, 2015
Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
Martina Proietti Onori1, Geeske M van Woerden1
1Department of Neuroscience, Erasmus MC, Rotterdam, 3015 GD, the Netherlands; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, 3015 GD, the Netherlands.
Abstract:
Neurodevelopmental disorders are a complex and heterogeneous group of neurological disorders characterized by their early-onset and estimated to affect more than 3% of children worldwide. The rapid advancement of sequencing technologies in the past years allowed the identification of hundreds of variants in several different genes causing neurodevelopmental disorders. Between those, new variants in the Calcium/calmodulin dependent protein kinase II (CAMK2) genes were recently linked to intellectual disability. Despite many years of research on CAMK2, this proves for the first time that this well-known and highly conserved molecule plays an important role in the human brain. In this review, we give an overview of the identified CAMK2 variants, and we speculate on potential mechanisms through which dysfunctions in CAMK2 result in neurodevelopmental disorders. Additionally, we discuss how the identification of CAMK2 variants might result in new exciting discoveries regarding the function of CAMK2 in the human brain.
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