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Article

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

American journal of human genetics - 3 Apr 2025

Bereshneh Ali H, Andrews Jonathan C, Eberl Daniel F, Bademci Guney, Borja Nicholas A, Bivona Stephanie, Chung Wendy K, Yamamoto Shinya, Wangler Michael F, McKee Shane, Tekin Mustafa, Bellen Hugo J, Kanca Oguz

Abstract excerpt

The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40088891
DOI: 10.1016/j.ajhg.2025.02.019
PMCID: PMC12081231

Genes

CDKL1
CDKL2
CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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