title: Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.
abstract: The aim of this study was to assess outcome and seizure response to treatment with stiripentol (STP) associated to valproate (VPA) and clobazam (CLB), which we have used in our center since the 1990s, in patients with Dravet syndrome (DS).
  
  
  
  We performed a cross-sectional study of all DS patients with SCN1A mutations who had at least one visit to our center in 2013. A total of 54 patients were included (32 males, 22 females), whose ages ranged from 2.5 to 22 years.
  
  
  
  Seizure onset ranged from 2 to 9 months (mean 5 months). Treatment started at a mean age of 7 months with valproate (VPA) as first therapy in 83% of patients. STP was prescribed in 96% at an average age of 20 months. At last follow-up (up to 22 years, median 8 years), 96% were still receiving STP, with VPA and clobazam (CLB) in 91%. Additional therapies were prescribed in 72% of patients. Most patients (96%) continued to have clonic or tonic-clonic seizures but they were brief (<5min, with last status epilepticus (SE) episode being before 4 years of age). Seizures occurred weekly (>3/month) in 38% of patients, monthly (1-3/month) in 40%, and yearly in the remaining patients. None presented with daily seizures. Seizure frequency at last visit was related to the age of treatment initiation, the age of last SE, and SCN1A mutation type.
  
  
  
  Triple therapy with STP, VPA, and CLB was maintained long-term by 96% of this large DS cohort because the reduced frequency and severity of seizures STP provided when added to CLB and VPA was durable. Nevertheless, only a few patients achieved seizure freedom and persisting seizures remains a concern in the majority of patients.
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Department of Pediatrics and Child Neuropsychiatry, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy. Electronic address: paola.deliso@uniroma1.it.
authors.forename: Paola
authors.initials: P
authors.lastname: De Liso
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: nicole.chemaly@aphp.fr.
authors.forename: Nicole
authors.initials: N
authors.lastname: Chemaly
authors.affiliation: Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: jacques.laschet@inserm.fr.
authors.forename: Jacques
authors.initials: J
authors.lastname: Laschet
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France. Electronic address: christine.barnerias@aphp.fr.
authors.forename: Christine
authors.initials: C
authors.lastname: Barnerias
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: marie.hully@aphp.fr.
authors.forename: Marie
authors.initials: M
authors.lastname: Hully
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: dorothee.leunen@aphp.fr.
authors.forename: Dorothée
authors.initials: D
authors.lastname: Leunen
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: isabelle.desguerre@aphp.fr.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France. Electronic address: catherine.chiron@aphp.fr.
authors.forename: Catherine
authors.initials: C
authors.lastname: Chiron
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France. Electronic address: olivier.dulac@aphp.fr.
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.affiliation: Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address: rima.nabbout@aphp.fr.
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
mesh_terms: D000293:Adolescent; D000367:Age Factors; D000927:Anticonvulsants / Q000627:therapeutic use*; D001569:Benzodiazepines / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D000078306:Clobazam; D003430:Cross-Sectional Studies; D004148:Dioxolanes / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D004831:Epilepsies, Myoclonic / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005602:France; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D012720:Severity of Illness Index; D017211:Treatment Failure; D014635:Valproic Acid / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D004148:Dioxolanes; D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human; D001569:Benzodiazepines; D000078306:Clobazam; D014635:Valproic Acid; C021092:stiripentol
keywords: Combined therapy; Dravet syndrome; Outcome; SCN1A; Seizure duration; Seizure frequency; Status epilepticus; Stiripentol