Published in:
Open Access
01-12-2024 | Encephalopathy | Commentary
Revealing the complex role of CDKL5 in developmental epilepsy through a calcium channel related vision
Authors:
Mengqi Yan, Xiongfeng Guo, Cenglin Xu
Published in:
Acta Epileptologica
|
Issue 1/2024
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Abstract
Developmental and epileptic encephalopathies are severe neurological conditions in clinical practice, among which loss-of-function mutations in brain-enriched serine-threonine kinase cyclin dependent kinase like-5 (CDKL5) exists as one of the most common types. It is unknown, therefore, how precisely CDKL5 mutations lead to neuronal hyper-excitation. A recent study that looked at the connection between voltage-gated calcium channel Cav2.3 and CDKL5 in an experimental context was published in Nature Communications. This study has revealed that Cav2.3, a physiological phosphorylation target of CDKL5, would show delayed inactivation and increased cholinergic stimulation in CDKL5 knock out conditions. This would in turn cause neuronal hyperexcitability and related enhanced seizure susceptibility. This work, in our opinion, provided fresh insight into the epileptic encephalopathies linked to CDKL5 and highlighted Cav2.3 as a possible target for it.