Epileptic Disorders
MENUEarly and long-term electroclinical features of patients with epilepsy and PCDH19 mutation Volume 20, issue 6, December 2018
Authors
Aims
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
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.