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Article

Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.

Pediatric neurology - 1 Feb 2012

Moseley Brian D, Dhamija Radhika, Wirrell Elaine C, Nickels Katherine C

Abstract excerpt

Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies. We sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations. Six children were identified. One manifested a deletion in...

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Follow-Up Studies
Anticonvulsants
Developmental Disabilities
Diet, Ketogenic
Epilepsies, Partial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Serine-Threonine Kinases

Spasms, Infantile

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Identifiers

PMID: 22264704
DOI: 10.1016/j.pediatrneurol.2011.11.007

Genes

CDKL5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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