This article is commented on by Arts on page 296 of this issue.
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life
Article first published online: 11 FEB 2011
© The Authors. Journal compilation © Mac Keith Press 2011
Developmental Medicine & Child Neurology
Volume 53, Issue 4, pages 354–360, April 2011
How to Cite
MELANI, F., MEI, D., PISANO, T., SAVASTA, S., FRANZONI, E., FERRARI, A. R., MARINI, C. and GUERRINI, R. (2011), CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology, 53: 354–360. doi: 10.1111/j.1469-8749.2010.03889.x
- Issue published online: 14 MAR 2011
- Article first published online: 11 FEB 2011
- PUBLICATION DATA Accepted for publication 13th October 2010. Published online 11th February 2011.
Aim Cyclin-dependent kinase-like 5 (CDKL5) gene abnormalities cause an early-onset epileptic encephalopathy. We performed video-electroencephalography (video-EEG) monitoring early in the course of CDKL5-related epileptic encephalopathy in order to examine the early electroclinical characteristics of the condition.
Method We used video-EEG to monitor six infants (five females, one male) with CDKL5-related epileptic encephalopathy (five mutations; one deletion), at ages 45 days to 12 months and followed them up to the ages of 14 months to 5 years (mean age 23mo). We focused our analysis on the first year of life. The results were evaluated against those of a comparison group of nine infants (aged below 1y) with epileptic encephalography who had tested negative for CDKL5 mutations and deletions.
Results One infant exhibited normal background activity, three exhibited moderate slowing, and two exhibited a suppression burst pattern. Two participants had epileptic spasms and four had a stereotyped complex seizure pattern, which we defined as a ‘prolonged’ generalized tonic–clonic event consisting of a tonic–tonic/vibratory contraction, followed by a clonic phase with series of spasms, gradually translating into repetitive distal myoclonic jerks. Seizure duration ranged from 2 to 4 minutes. The EEG correlate of each clinical phase included an initial electrodecremental event (tonic vibratory phase), irregular series of sharp waves and spike slow waves (clonic phase with series of spasms), and bilateral rhythmic sharp waves (time locked with myoclonus).
Interpretation Infants with CDKL5-related early epileptic encephalopathy can present in the first year of life with an unusual electroclinical pattern of ‘prolonged’ generalized tonic–clonic seizures.