Associated Papers
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.
Sezer A et al.
European Journal of Human Genetics : Ejhg, 2025
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
Limerick A et al.
Cells, 2024
An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling.
Limerick A et al.
Biorxiv : the Preprint Server for Biology, 2024
Post-translational modification enzymes as key regulators of ciliary protein trafficking.
Chaya T et al.
Journal of Biochemistry, 2021
Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.
Salvati KA et al.
International Journal of Molecular Sciences, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.
Wang EJ et al.
Cells, 2020
Ciliogenesis associated kinase 1: targets and functions in various organ systems.
Fu Z et al.
Febs Letters, 2019
The genetic basis of juvenile myoclonic epilepsy.
Striano P et al.
The Lancet. Neurology, 2018
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN et al.
The New England Journal of Medicine, 2018
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