Paola De Liso1, Nicole Chemaly2, Jacques Laschet3, Christine Barnerias4, Marie Hully5, Dorothée Leunen6, Isabelle Desguerre7, Catherine Chiron8, Olivier Dulac9, Rima Nabbout10. 1. 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. 2. 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. 3. 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. 4. 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. 5. 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. 6. 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. 7. 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. 8. 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. 9. 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. 10. 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.
Abstract
OBJECTIVE: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: 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). METHODS: 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. RESULTS: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. CONCLUSIONS: 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 seizuresSTP 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: Nicole A Hawkins; Michael Lewis; Rebecca S Hammond; James J Doherty; Jennifer A Kearney Journal: Sci Rep Date: 2017-11-10 Impact factor: 4.379
Authors: Nicole A Hawkins; Lyndsey L Anderson; Tracy S Gertler; Linda Laux; Alfred L George; Jennifer A Kearney Journal: Ann Clin Transl Neurol Date: 2017-04-26 Impact factor: 4.511