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Article

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder.

Neuroscience research - 1 Mar 2022

Di Nardo Alessia, Rühmkorf Alina, Award Patricia, Brennecke Ashton, Fagiolini Michela, Sahin Mustafa

Abstract excerpt

CDKL5 Deficiency Disorder (CDD) is a severe encephalopathy characterized by intractable epilepsy, infantile spasms, and cognitive disabilities. The detrimental CNS manifestations and lack of therapeutic interventions represent unmet needs, necessitating identification of CDD-dependent phenotypes for in vitro disease modeling and therapeutic testing. Here, we optimized a high-content assay to quantify cilia in...

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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: 34624412
DOI: 10.1016/j.neures.2021.10.001
PMCID: PMC8960319

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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