Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E570*
Back to variants list

CDKL5

NM_001323289.2:p.E570*

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.

Fazzari M et al.

Rna Biology, 2019

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development.

Zhu YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK et al.

Neuromolecular Medicine, 2013

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

Kilstrup-Nielsen C et al.

Neural Plasticity, 2012

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K et al.

Journal of Human Genetics, 2011

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Gökben S et al.

The Turkish Journal of Pediatrics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."