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Article

Epilepsy caused by CDKL5 mutations.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2011

Castrén Maija, Gaily Eija, Tengström Carola, Lähdetie Jaana, Archer Hayley, Ala-Mello Sirpa

Abstract excerpt

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like...

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Source

Identifiers

PMID: 20493745
DOI: 10.1016/j.ejpn.2010.04.005

Genes

CDKL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Epilepsy caused by CDKL5 mutations.PMID 20493745Read ↗

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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?Semantic proximity Read ↗

CDKL5 alterations lead to early epileptic encephalopathy in both genders.Semantic proximity Read ↗

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.Semantic proximity Read ↗

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.Semantic proximity Read ↗

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.Semantic proximity Read ↗

The three stages of epilepsy in patients with CDKL5 mutations.Semantic proximity Read ↗

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A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.Semantic proximity Read ↗

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