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<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders
34/34 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
The 34 checked references that resolve
resolves10.1111/j.1528-1167.2012.03474.x
Neuronal excitability and calcium/calmodulin‐dependent protein kinase type II: Location, location, location
resolves10.1016/j.neuron.2013.12.024
CaMKII: Claiming Center Stage in Postsynaptic Function and Organization
resolves10.1016/j.sbi.2013.04.002
Structural studies on the regulation of Ca2+/calmodulin dependent protein kinase II
resolves10.1074/jbc.274.37.26199
Structural Examination of Autoregulation of Multifunctional Calcium/Calmodulin-dependent Protein Kinase II
resolves10.1523/JNEUROSCI.5105-10.2011
CaMKII Plays a Nonenzymatic Role in Hippocampal Synaptic Plasticity and Learning by Targeting CaMKII to Synapses
resolves10.1126/science.1378648
Deficient Hippocampal Long-Term Potentiation in α-Calcium-Calmodulin Kinase II Mutant Mice
resolves10.1038/nn.2329
βCaMKII controls the direction of plasticity at parallel fiber–Purkinje cell synapses
resolves10.1146/annurev-physiol-021014-071753
Long-Term Potentiation: From CaMKII to AMPA Receptor Trafficking
resolves10.1073/pnas.0701656104
The role of CaMKII as an F-actin-bundling protein crucial for maintenance of dendritic spine structure
resolves10.1523/JNEUROSCI.2068-16.2017
A Novel Human
<i>CAMK2A</i>
Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors
resolves10.1113/jphysiol.2012.229013
A‐type K<sup>+</sup> channels encoded by Kv4.2, Kv4.3 and Kv1.4 differentially regulate intrinsic excitability of cortical pyramidal neurons
resolves10.1523/JNEUROSCI.5890-09.2010
Molecular Dissection of<i>I</i><sub>A</sub>in Cortical Pyramidal Neurons Reveals Three Distinct Components Encoded by Kv4.2, Kv4.3, and Kv1.4 α-Subunits
resolves10.1523/JNEUROSCI.2783-06.2006
Unanticipated Region- and Cell-Specific Downregulation of Individual KChIP Auxiliary Subunit Isotypes in Kv4.2 Knock-Out Mouse Brain
resolves10.1016/0896-6273(92)90166-B
Subcellular segregation of two A-type K+ channel proteins in rat central neurons
resolves10.1523/JNEUROSCI.0154-04.2004
Calcium–Calmodulin-Dependent Kinase II Modulates Kv4.2 Channel Expression and Upregulates Neuronal A-Type Potassium Currents
resolves10.1038/nn.2969
Inactivity-induced increase in nAChRs upregulates Shal K+ channels to stabilize synaptic potentials
resolves10.1038/ng.2562
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
resolves10.1016/j.ajhg.2010.04.013
Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
resolves10.1038/ng.150
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
resolves10.1016/j.cell.2011.07.038
A Mechanism for Tunable Autoinhibition in the Structure of a Human Ca2+/Calmodulin- Dependent Kinase II Holoenzyme
resolves10.1371/journal.pbio.1000426
Structure of the CaMKIIδ/Calmodulin Complex Reveals the Molecular Mechanism of CaMKII Kinase Activation
resolves10.1529/biophysj.104.042358
Modulation of Kv4.2 Channel Expression and Gating by Dipeptidyl Peptidase 10 (DPP10)
resolves10.1523/JNEUROSCI.2667-06.2006
Deletion of<i>Kv4.2</i>Gene Eliminates Dendritic A-Type K<sup>+</sup>Current and Enhances Induction of Long-Term Potentiation in Hippocampal CA1 Pyramidal Neurons
resolves10.1016/j.ajhg.2017.10.003
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
resolves10.1073/pnas.0505359102
Mass of the postsynaptic density and enumeration of three key molecules
resolves10.1016/S0021-9258(17)39454-1
Distinct forebrain and cerebellar isozymes of type II Ca2+/calmodulin-dependent protein kinase associate differently with the postsynaptic density fraction.
resolves10.1038/nn1178
LTP is accompanied by an enhanced local excitability of pyramidal neuron dendrites
resolves10.1093/hmg/ddu056
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation
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