Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Martina Proietti Onori, Geeske M. van Woerden*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
6 Downloads (Pure)

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.

Original languageEnglish
Pages (from-to)209-220
Number of pages12
JournalBrain Research Bulletin
Volume171
DOIs
Publication statusPublished - Jun 2021

Bibliographical note

Funding Information:
This research was supported by the NWO-VIDI (016.Vidi.188.014 to G.M.v.W.)

Publisher Copyright:
© 2021 The Author(s)

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