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

Authors: Moseley, Brian D  Dhamija, Radhika  Wirrell, Elaine C  Nickels, Katherine C 
Citation: Moseley BD, etal., Pediatr Neurol. 2012 Feb;46(2):101-5. doi: 10.1016/j.pediatrneurol.2011.11.007.
Pubmed: (View Article at PubMed) PMID:22264704
DOI: Full-text: DOI:10.1016/j.pediatrneurol.2011.11.007

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 exons 10-15 of the CDKL5 gene, another manifested a single base-pair duplication in exon 3, and the rest manifested base-pair exchanges. The mean age of seizure onset was 1.8 months (range, 1-3 months). Although the majority (4/6, 67%) presented with partial-onset seizures, all children developed infantile spasms. All children demonstrated developmental delay and visual impairment. Although such mutations are X-linked, two children were boys. They did not present with more severe phenotypes than their female counterparts. Despite trials of antiepileptic drugs (mean, 5; range, 3-7), steroids/adrenocorticotropic hormone (4/6; 67%), and the ketogenic diet (6/6; 100%), all children manifested refractory seizures at last follow-up. Although no treatment eliminated seizures, topiramate, vigabatrin, and the ketogenic diet were most helpful at reducing seizure frequency.

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CRRD Object Information
CRRD ID: 12791013
Created: 2017-02-27
Species: All species
Last Modified: 2017-02-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.