John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy Volume 18, numéro 1, March 2016

Vidéos

  • Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy
  • Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy

Illustrations

  • Figure 1
  • Figure 2
Auteurs
1 National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO
2 Department of Pediatrics, Jikei University School of Medicine
3 The Central Research Institute for the Molecular Pathomechanisms of Epilepsy of Fukuoka University
4 Department of Pediatrics, Fukuoka University, School of Medicine, Japan
* Correspondence: Hiroko Ikeda National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Shizuoka 420-8688, Japan
  • Mots-clés : PCDH19-related epilepsy, PCDH19, focal-onset convulsive seizures, EEG
  • DOI : 10.1684/epd.2016.0803
  • Page(s) : 26-33
  • Année de parution : 2016

PCDH19-related epilepsy is a genetic disorder that was first described in 1971, then referred to as “epilepsy and mental retardation limited to females”. PCDH19 has recently been identified as the responsible gene, but a detailed characterization of the seizure manifestation based on video-EEG recording is still limited. The purpose of this study was to elucidate features of the seizure semiology in children with PCDH19-related epilepsy. To do this, ictal video-EEG recordings of 26 convulsive seizures in three girls with PCDH19-related epilepsy were analysed. All seizures occurred in clusters, mainly during sleep accompanied by fever. The motor manifestations consisted of six sequential phases: “jerk”, “reactive”, “mild tonic”, “fluttering”, “mild clonic”, and “postictal”. Some phases were brief or lacking in some seizures, whereas others were long or pronounced. In the reactive phase, the patients looked fearful or startled with sudden jerks and turned over reactively. The tonic and clonic components were less intense compared with those of typical tonic-clonic seizures in other types of epilepsy. The fluttering phase was characterised initially by asymmetric, less rhythmic, and less synchronous tremulous movement and was then followed by the subtle clonic phase. Subtle oral automatism was observed in the postictal phase. The reactive, mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19-related epilepsy. Ictal EEG started bilaterally and was symmetric in some patients but asymmetric in others. It showed asymmetric rhythmic discharges in some seizures at later phases. The electroclinical pattern of the phasic evolution of convulsive seizure suggests a focal onset seizure with secondary generalisation.Based on our findings, we propose that the six unique sequential phases in convulsive seizures suggest the diagnosis of PCDH19-related epilepsy when occurring in clusters with or without high fever in girls. [Published with video sequences online]