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Article

Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.

Neuroscience and biobehavioral reviews - 1 Sept 2023

Borghi Rossella, Trivisano Marina, Specchio Nicola, Tartaglia Marco, Compagnucci Claudia

Abstract excerpt

'Dominant mutations in CAMK2B, encoding a subunit of the calcium/calmodulin-dependent protein kinase II (CAMK2), a serine/threonine kinase playing a key role in synaptic plasticity, learning and memory, underlie a recently characterized neurodevelopmental disorder (MRD54) characterized by delayed psychomotor development, mild to severe intellectual disability, hypotonia, and behavioral abnormalities. Targeted...

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Identifiers

PMID: 37391113
DOI: 10.1016/j.neubiorev.2023.105299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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