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Article

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

The Journal of biological chemistry - 20 Oct 2006

Bertani Ilaria, Rusconi Laura, Bolognese Fabrizio, Forlani Greta, Conca Barbara, De Monte Lucia, Badaracco Gianfranco, Landsberger Nicoletta, Kilstrup-Nielsen Charlotte

Abstract excerpt

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. Disease-causing mutations are distributed in both the catalytic domain and in the large COOH terminus. In this report, we examine the functional...

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Source

Identifiers

PMID: 16935860
DOI: 10.1074/jbc.M606325200

Genes

CDKL5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.PMID 16935860Read ↗

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