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Article

Clinical and functional study of two de novo variations of CDKL5 gene.

Neurogenetics - 1 Oct 2023

You Yang, Men Xinyi, Wu Wenjuan, Liu Shan, He Xuexin, Sun Suzhen, Wang Xiuxia, Li Baoguang

Abstract excerpt

The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental and epileptic encephalopathy (DEE). Although numerous cases of CDKL5 have been reported, there is limited discussion regarding functional verification. We described two children with DEE caused by de novo variations of CDKL5 gene, analyzed their clinical manifestations, and performed genetic...

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Epileptic Syndromes
Child, Preschool
Developmental Disabilities
CDKL5 gene
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Serine-Threonine Kinases

Spasms, Infantile

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Identifiers

PMID: 37584787
DOI: 10.1007/s10048-023-00731-x

Genes

CDKL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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