The Second Period: 1953–19921 Giselle Weiss and Simon Shorvon
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4° HORIZONS FOR DRAVET SYNDROME INTERNATIONAL SYMPOSIUM “DRAVET SYNDROME AND OTHER SODIUM CHANNEL RELATED ENCEPHALOPATHIES” 15-16 MARCH 2018, VERONA | PALAZZO DELLA GRAN GUARDIA [email protected] · www.horizonsdravet.eu Abstract Book !1 SCIENTIFIC COMMITTEE Prof. Renzo Guerrini - Firenze, Italy Prof. Helen Cross - London, UK Prof. Bernardo Dalla Bernardina - Verona, Italy Prof. Rima Nabbout - Paris, France Dr. Francesca Darra - Verona, Italy HONORARY PRESIDENT OF SYMPOSIUM Charlotte Dravet - Marseille, France ORGANIZING SECRETARIAT Isabella Brambilla - Verona, Italy Elisa Giarola - Verona, Italy Hannah Rawlinson - Verona, Italy PTS via Nizza 45, 00198 Roma Maura Stella !2 Dear friends and colleagues, On the occasion of 40 years since Dravet Syndrome was first defined, and 8 years after organizing the first Workshop in Verona, we are very pleased to invite you once again to this magnificent city for the “Dravet Syndrome and Other Sodium Channel Related Encephalopathies” International Symposium. The Symposium consists of two days focusing on scientific research relating to genes SCN1A, SCN2A and SCN8A. The study of epilepsy and the care of children have changed remarkably in recent years, after the identification of the genetic causes of some epilepsy syndromes. The main epi- lepsy gene- the sodium channel alpha 1 (SCN1A)- has been linked to Dravet Syndrome, to a number of less severe forms of epilepsy, and to febrile convulsions. However, more than 15 years after the causative role of this gene was identified in these forms, and in spite of the large number of patients identified, the spectrum of clinical manifestations associated with SCN1A mutations continues to be enriched by new phenotypes and only recently has enough evidence been collected to foresee to what extent early clinical and genetic predictors seem to influence prognosis. -
The Core Dravet Syndrome Phenotype *Yzcharlotte Dravet
Epilepsia, 52(Suppl. 2):3–9, 2011 doi: 10.1111/j.1528-1167.2011.02994.x DRAVET SYNDROME The core Dravet syndrome phenotype *yzCharlotte Dravet *Centre Saint-Paul-Hoˆpital Henri Gastaut, Marseille, France; yDepartment of Child Neurology and Psychiatry, Catholic University School of Medicine, Rome, Italy; and zEpilepsy, Neurophysiology, Neurogenetics Unit, IRCCS, Stella Maris Foundation, Pisa, Italy by febrile or afebrile clonic and tonic–clonic, gen- SUMMARY eralized, and unilateral seizures, often prolonged, Dravet syndrome was described in 1978 by Dravet in an apparently normal infant is the first (1978) under the name of severe myoclonic epi- symptom, suggesting the diagnosis. Later on, lepsy in infancy (SMEI). The characteristics of the multiple seizure types, mainly myoclonic, atypical syndrome were confirmed and further delineated absences, and focal seizures appear, as well as a by other authors over the years. According to the slowing of developmental and cognitive skills, and semiologic features, two forms have been individu- the appearance of behavioral disorders. Mutation alized: (1) the typical, core, SMEI; and (2) the bor- screening for the SCN1A gene confirms the diagno- derline form, SMEIB, in which the myoclonic sis in 70–80% of patients. All seizure types are component is absent or subtle. Clinical manifesta- pharmacoresistent, but a trend toward less severe tions at the onset, at the steady state, and during epilepsy and cognitive impairment is usually the course of the disease are analyzed in detail for observed after the age of 5 years. the typical Dravet syndrome, and the differential KEY WORDS: Severe myoclonic epilepsy in infancy, diagnosis is discussed. -
Henri Gastaut 19 15-1 995
Epilepsia, 37(4):410-4 15, 1996 Lippincott-Raven Publishers, Philadelphia 0 International League Against Epilepsy In Memoriam Henri Gastaut 19 15-1 995 Charlotte Dravet and Joseph Roger Centre Saint-Paul, Centre HGspitalier SpPcialisk pour L’Epilepsie, Marseille, France “J’airnerais rnieux ne rien dire the new technique of EEG to study normal and ab- que rn’exprimer faiblement. ” normal cortical function, and in 1953 he became Head of the Neurobiological Laboratories at the Van Gogh Marseille Hospital. In recognition of his outstand- ing contributions in EEG and related fields, a chair Henri Gastaut died in July 1995, at home in in clinical neurophysiology was created for him in Marseille, at the age of eighty. His death was a great 1973, and he held the permanent position of Profes- loss to the international epilepsy community, for his sor of Clinical Neurophysiology from 1973 until his contributions knew no national boundaries. There retirement in 1984. are few names that are as synonymous with epi- In 1967, Gastaut’s colleagues elected him Dean of lepsy as his: he was one of the great pioneers who the University of Marseille School of Medicine. The established epileptology as a respected discipline wisdom of this choice was proved in 1968, when within neurology and whose contributions ad- Gastaut’s exceptional intelligence, diplomacy, and vanced the knowledge and treatment of epilepsy communication skills allowed him to navigate suc- enormously (Fig. 1). His intelligence was so keen cessfully that period of student unrest and political and his personality exceptional that no one who so turmoil and to lead the medical school community met him could ever forget the encounter. -
Contributors
Epileptic Syndromes in Infancy, Childhood and Adolescence (6th ed), M. BUREAU,P.GENTON,C.DRAVET,A.V.DELGADO-ESCUETA,R.GUERRINI,C.A.TASSINARI,P.THOMAS &P.WOLF ■ X © 2019 John Libbey Eurotext Ltd, p. X. CONTRIBUTORS Frederick Andermann Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada Chapter 18. Rasmussen encephalitis Jérôme Aupy Bordeaux University Hospital, Department of Clinical Neurosciences, Bordeaux, France Chapter 20. The syndromes of mesio-temporal lobe epilepsy with hippocampal scleroses and temporal plus epilepsies Stéphane Auvin Pediatric Neurology Department, Robert-Debré Children Hospital, University of Paris, France Chapter 11. Myoclonic epilepsies in infancy and early childhood Nadia Bahi-Buisson Pediatric Neurology, Hôpital Necker Enfants-Malades, Paris, France Chapter 29. Epilepsies and chromosomal disorders Julia N. Bailey Epilepsy Genetics and Genomics Labs, Neurology and Research Services, Veterans Affairs Greater Los Angeles Healthcare System, West Los Angeles, USA; Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles (J.N.B.), USA Chapter 2. Genetic basis and testing of epileptic syndromes Thomas Bast Department of children and adolescents, Epilepsy Centre Kork, Kehl, Germany Chapter 24. Epilepsy and inborn errors of metabolism Elinor Ben-Menachem Institute for Clinical Neurosciences, Sahlgrenska Academy, Goteborg, Sweden Chapter 20. The syndromes of mesio-temporal lobe epilepsy with hippocampal scleroses and temporal plus epilepsies Michelle Bureau Centre Saint-Paul, Henri-Gastaut Hospital, Marseille, France Chapter 6. Benign neonatal and infantile seizures and epilepsies Chapter 10. Dravet syndrome (previously severe myoclonic epilepsy in infancy) Chapter 13. Self-limited focal epilepsies in childhood Chapter 14. Encephalopathy related to status epilepticus during slow sleep (ESES) including Landau-Kleffner syndrome Chapter 15.