John Libbey Eurotext

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

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.