Voltage‐gated calcium channels in genetic epilepsies

RJ Lauerer, H Lerche - Journal of Neurochemistry, 2024 - Wiley Online Library
Voltage‐gated calcium channels (VGCC) are abundant in the central nervous system and
serve a broad spectrum of functions, either directly in cellular excitability or indirectly to …

Voltage-gated ion channels in epilepsies: circuit dysfunctions and treatments

D Debanne, K Mylonaki, ML Musella… - Trends in Pharmacological …, 2024 - cell.com
Epileptic encephalopathies are generally considered to be functional disruptions in the
balance between neural excitation and inhibition. Excitatory and inhibitory voltage-gated ion …

A review of CDKL: An underestimated protein kinase family

C Li, Y Liu, S Luo, M Yang, L Li, L Sun - International Journal of Biological …, 2024 - Elsevier
Cyclin-dependent kinase-like (CDKL) family proteins are serine/threonine protein kinases
and is a specific branch of CMGC (including CDK, MAPK, GSK). Its name is due to the …

Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal

X Song, Z Xia, D Martinez, B Xu, Z Spritzer, Y Zhang… - Cell Reports …, 2025 - cell.com
Summary Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. The early …

Inactivation of CaV1 and CaV2 channels

WB Limpitikul, IE Dick - Journal of General Physiology, 2025 - rupress.org
Voltage-gated Ca2+ channels (VGCCs) are highly expressed throughout numerous
biological systems and play critical roles in synaptic transmission, cardiac excitation, and …

Revealing the complex role of CDKL5 in developmental epilepsy through a calcium channel related vision

M Yan, X Guo, C Xu - Acta Epileptologica, 2024 - Springer
Developmental and epileptic encephalopathies are severe neurological conditions in
clinical practice, among which loss-of-function mutations in brain-enriched serine-threonine …

Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons

MR Glass, D Whye, NC Anderson, D Wood… - bioRxiv, 2024 - biorxiv.org
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy
resulting from variants in cyclin-dependent kinase-like 5 (CDKL5) that lead to impaired …

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Calcium Channelopathy?

CE Stafstrom - Epilepsy Currents, 2024 - journals.sagepub.com
Epilepsy-Linked Kinase CDKL5 Phosphorylates Voltage-Gated Calcium Channel Cav2. 3,
Altering Inactivation Kinetics and Neuronal Excitability Sampedro-Castañeda M, Baltussen …

Correcting Dominant Negative Neurological Disease-Causing Mutations with in vivo CRISPR Genome Editing

T Turner - 2024 - discovery.ucl.ac.uk
Episodic ataxia type 1 (EA1) is a rare, autosomal dominantly inherited neurological
movement disorder caused by mutations in the KCNA1 gene, which encodes the voltage …

Pupillometry measures for tracking brain function in health and disease

A Viglione - 2024 - ricerca.sns.it
The size of our pupils changes continuously in response to variations in ambient light levels
to regulate the amount of light that reaches the retina for optimizing vision. However, even …