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Article

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

Journal of child neurology - 1 Jul 2013

Jähn Johanna, Caliebe Almuth, von Spiczak Sarah, Boor Rainer, Stefanova Irina, Stephani Ulrich, Helbig Ingo, Muhle Hiltrud

Abstract excerpt

CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting...

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Source

Identifiers

PMID: 22832775
DOI: 10.1177/0883073812451497

Genes

CDKL5

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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