John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation Volume 20, issue 6, December 2018

Figures

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  • Figure 4

Tables

Authors
1 Pediatric Neurology Department, Centre de Référence des Épilepsies Rares, Necker Enfants Malades Hospital, Paris
2 Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette
3 Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris
4 Pediatric Neurology, Raymond Poincaré Hospital, Garches
5 Pediatric Department, CHU Nantes, Nantes
6 Pediatric Neurology, Hôpital Henri Gastaut, Marseille
7 Pediatric Department, CH Mignot, Versailles
8 Neurology Department, Centre de Référence des Épilepsies Rares, Pitié Salpêtrière Hospital, Paris, France
* Correspondence: Rima Nabbout Centre de Référence des Épilepsies Rares, Service de Neuropédiatrie, Hôpital Necker Enfants Malades, 149, rue de Sèvres, 75015 Paris, France
  • Key words: early-onset epilepsy, intellectual disability, Dravet syndrome, EFMR, PCDH19, afebrile focal seizures, fever-sensitive seizures
  • DOI : 10.1684/epd.2018.1009
  • Page(s) : 457-67
  • Published in: 2018

Aims

Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a “Dravet-like” phenotype. We aimed to elucidate the electroclinical phenotype associated with PCDH19 mutation, which is currently difficult to identify at onset leading to a delay in diagnosis.