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Article

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

Neuropediatrics - 1 Dec 2016

Lilles Stella, Talvik Inga, Noormets Klari, Vaher Ulvi, Õunap Katrin, Reimand Tiia, Sander Valentin, Ilves Pilvi, Talvik Tiina

Abstract excerpt

Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and...

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Source

Identifiers

PMID: 27599155
DOI: 10.1055/s-0036-1586730

Genes

CDKL5

Variants

Provenance

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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