Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.
Yalçın Çapan Ö
Journal of Molecular Neuroscience : Mn, 2025
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.
Yoshimura Y et al.
International Journal of Molecular Sciences, 2022
36293137 (PubMed )
Supplement: ijms-23-12281-s001.zip › ijms-1934913-supplementary.pdf
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
Select a paper to view details