Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations.
Cheung JS et al.
Current Opinion in Neurobiology, 2025
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Lintas C et al.
Genes, 2023
Förster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIα activity in de novo mutations related to intellectual disability.
Fujii H et al.
Frontiers in Molecular Neuroscience, 2022
Characterization of six CaMKIIα variants found in patients with schizophrenia.
Brown CN et al.
Iscience, 2021
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Li J et al.
Gene, 2019
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T et al.
Annals of Clinical and Translational Neurology, 2018
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