John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Diaper changing-induced reflex seizures in CDKL5-related epilepsy Volume 20, issue 5, October 2018

Video

  • Diaper changing-induced reflex seizures in CDKL5-related epilepsy

Figures

  • Figure 1
  • Figure 2
Authors
1 Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona
2 Laboratory of Neurogenetics, Pediatric Neurology Unit, Children's Hospital A. Meyer, Florence, Italy
* Correspondence: Roberta Solazzi Child Neuropsychiatry, University of Verona, Pzz.le A. Stefani 1, 37126, Verona, Italy
  • Key words: reflex seizure, diaper changing-induced reflex seizure, rub epilepsy, CDKL5-related encephalopathy
  • DOI : 10.1684/epd.2018.0999
  • Page(s) : 428-33
  • Published in: 2018

Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changing-induced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease. [Published with video sequence on www.epilepticdisorders.com]