Contributors
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
1 ILAE Classification & Definition of Epilepsy Syndromes in the Neonate
ILAE Classification & Definition of Epilepsy Syndromes in the Neonate and Infant: Position Statement by the ILAE Task Force on Nosology and Definitions Authors: Sameer M Zuberi1, Elaine Wirrell2, Elissa Yozawitz3, Jo M Wilmshurst4, Nicola Specchio5, Kate Riney6, Ronit Pressler7, Stephane Auvin8, Pauline Samia9, Edouard Hirsch10, O Carter Snead11, Samuel Wiebe12, J Helen Cross13, Paolo Tinuper14,15, Ingrid E Scheffer16, Rima Nabbout17 1. Paediatric Neurosciences Research Group, Royal Hospital for Children & Institute of Health & Wellbeing, University of Glasgow, Member of European Reference Network EpiCARE, Glasgow, UK. 2. Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester MN, USA. 3. Isabelle Rapin Division of Child Neurology of the Saul R Korey Department of Neurology, Montefiore Medical Center, Bronx, NY USA. 4. Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital, Neuroscience Institute, University of Cape Town, South Africa. 5. Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu’ Children’s Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy 6. Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia. Faculty of Medicine, University of Queensland, Queensland, Australia. 7. Clinical Neuroscience, UCL- Great Ormond Street Institute of Child Health, London, UK. Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Member of European Reference Network EpiCARE London, UK 8. Université de Paris, AP-HP, Hôpital Robert-Debré, INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, Member of European Reference Network EpiCARE, Paris, France. 9. Department of Paediatrics and Child Health, Aga Khan University, East Africa. 1 10. Neurology Epilepsy Unit “Francis Rohmer”, INSERM 1258, FMTS, Strasbourg University, France. -
Dravet Syndrome—The Polish Family's Perspective Study
Journal of Clinical Medicine Article Dravet Syndrome—The Polish Family’s Perspective Study Justyna Paprocka 1,*, Anita Lewandowska 2, Piotr Zieli ´nski 2 , Bartłomiej Kurczab 2, Ewa Emich-Widera 1 and Tomasz Mazurczak 3 1 Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland; [email protected] 2 Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland; [email protected] (A.L.); [email protected] (P.Z.); [email protected] (B.K.) 3 Clinic of Paediatric Neurology, National Research Institute of Mother and Child, 01-211 Warsaw, Poland; [email protected] * Correspondence: [email protected] Abstract: Aim: The aim of the paper is to study the prevalence of Dravet Syndrome (DS) in the Polish population and indicate different factors other than seizures reducing the quality of life in such patients. Method: A survey was conducted among caregivers of patients with DS by the members of the Polish support group of the Association for People with Severe Refractory Epilepsy DRAVET.PL. It included their experience of the diagnosis, seizures, and treatment-related adverse effects. The caregivers also completed the PedsQL survey, which showed the most important problems. The survey received 55 responses from caregivers of patients with DS (aged 2–25 years). Results: Prior to the diagnosis of DS, 85% of patients presented with status epilepticus lasting more than 30 min, and the frequency of seizures (mostly tonic-clonic or hemiconvulsions) ranged from 2 per week to hundreds per day. -
The Second Period: 1953–19921 Giselle Weiss and Simon Shorvon
9781405189552_4_C02.qxd 11/5/09 10:48 Page 45 International League Against Epilepsy – 2 the second period: 1953–19921 Giselle Weiss and Simon Shorvon Compiling a history of this second period of the they ultimately disappeared (Meinardi 2007). Minutes International League Against Epilepsy’s (ILAE) existence, from September 1974 indicate that Otto Magnus, also more than the first, is complicated by the lack of crucial embittered following arguments with the American documents. The dearth of archival material is due partly members of the ILAE executive, ‘did not wish’ to transfer to the organisational structure of the ILAE (at this time no all of his accumulated documents. Henri Gastaut, who central office or archive), partly because of the personal- earlier had actually appealed to the readers of Epilepsia to ities of those involved and partly because, after 1960, help him replenish the lost archives, hardly did better.2 Epilepsia emphasised its role as scientific journal more Few records from his long tenure on the executive survive. than its role as a record of ILAE activity. The records of The first determined effort to preserve the historical the League were kept by the secretary-general and moved papers was made by Harry Meinardi. In the 1980s he around the world with each change in administration and centralised and indexed the available materials, and his under such circumstances proved vulnerable. Bernard collection became the kernel of the current ILAE archive. Christian (B. Ch.) Ledeboer, secretary-general from 1949 The archive, then consisting of boxes of papers, some to 1957, was the medical director of the epilepsy centre dilapidated and damaged, was moved at least three times at Heemstede, Netherlands, and devoted to the cause of before finally travelling to a secure setting in Zurich in epilepsy, but his personal life was turbulent. -
The Contribution of Sleep to Cognitive Function in Children with Epilepsy
1 The contribution of sleep to cognitive function in children with epilepsy Samantha Yuen-Sum Chan UCL 29 June 2017 Thesis submitted for the degree of DOCTOR OF PHILOSOPHY 2 I, Samantha Yuen-Sum Chan, confirm the work presented in this thesis is my own. Where information has been derived from other sources, I confirm this has been indicated in the thesis. Signed: . .. Date: . .. 3 Abstract Cognitive impairment is the major co-morbidity in childhood epilepsy, and in many cases will have a larger long-term impact than the seizures themselves. How- ever, the mechanisms contributing to this are poorly understood, precluding target- ted intervention. Sleep is crucial for intelllectual functioning. Yet sleep in children with epilepsy, and its impact on intellectual function has scarcely been studied. This thesis aims to examine the structure and regulation of sleep in children with epilepsy, and to provide direct evidence of the impact of sleep on cognitive func- tion by correlating neurophysiological characteristics with performance on sleep- dependent neuropsychological tasks administered over the same interval as the sleep recorded. To examine sleep architecture in children with epilepsy, I developed a modified system for visual sleep scoring, taking into account nocturnal seizures and interic- tal activity. This was validated in a pilot sample, then applied to the scoring of 52 recordings from children with epilepsy. Based on established memory consolidation tasks and open-source psycholinguistic data, I developed and piloted a memory consolidation task battery suitable for testing school-aged English-speaking chil- dren, comprising parallel versions of a visuospatial and a verbal task. -
Fatal Status Epilepticus in Dravet Syndrome
brain sciences Article Fatal Status Epilepticus in Dravet Syndrome 1, 1,2, 3 4 Paola De Liso y, Virginia Pironi y, Massimo Mastrangelo , Domenica Battaglia , Dana Craiu 5, Marina Trivisano 1, Nicola Specchio 1 , Rima Nabbout 6 and Federico Vigevano 1,* 1 Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy; [email protected] (P.D.L.); [email protected] (V.P.); [email protected] (M.T.); [email protected] (N.S.) 2 Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Institute of Pediatrics, Policlinico Universitario Gemelli Foundation, Catholic University of Rome, 00168 Rome, Italy 3 Paediatric Neurology Unit, V. Buzzi Hospital, A.O. ICP, 20019 Milan, Italy; [email protected] 4 Department of Child Neurology and Psychiatry, Policlinico Universitario Gemelli Foundation, Catholic University of Rome, 00153 Rome, Italy; [email protected] 5 Department of Neurology, Paediatric Neurology, Psychiatry, Neurosurgery, “Carol Davila” University of Medicine of Bucharest, Full Member of European Reference Network EpiCARE, 050474 Bucharest, Romania; [email protected] 6 Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker-Enfants Malades Hospital, Imagine Institute, INSERMU1163, Paris Descartes University, Full Member of European Reference Network EpiCARE, 75006 Paris, France; [email protected] * Correspondence: [email protected] Both authors contributed equally to this work. y Received: 21 October 2020; Accepted: 17 November 2020; Published: 23 November 2020 Abstract: Dravet Syndrome (DS) is burdened by high epilepsy-related premature mortality due to status epilepticus (SE). We surveyed centres within Europe through the Dravet Italia Onlus and EpiCARE network (European Reference Network for Rare and Complex Epilepsies). -
Abstract Book
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. -
Atlas of Epilepsies
Atlas of Epilepsies C. P. Panayiotopoulos Editor Atlas of Epilepsies With 1147 Figures and 360 Tables Editor C. P. Panayiotopoulos MD, PhD, FRCP Department of Clinical Neurophysiology and Epilepsies St. Thomas’ Hospital London SE1 7EH UK and Department of Neurosciences John Radcliffe Hospital Oxford OX3 9DU UK ISBN 978-1-84882-127-9 e-ISBN 978-1-84882-128-6 Print and e-bundle ISBN 978-1-84882-344-0 DOI 10.1007/978-184882-128-6 Springer London Dordrecht Heidelberg New York British Library Cataloging in Publication Data A catalog record for this book is available from the British Library Library of Congress Control Number: 2010929091 ß Springer-Verlag London Limited 2010 Apart from any fair dealing for the purposes of research or private study, or criticism or review, as permitted under the Copyright, Designs and Patents Act 1988, this publication may only be reproduced, stored or transmitted, in any form or by any means, with the prior permission in writing of the publishers, or in the case of reprographic reproduction in accordance with the terms of licenses issued by the Copyright Licensing Agency. Enquiries concerning reproduction outside those terms should be sent to the publishers. The use of registered names, trademarks, etc., in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant laws and regulations and therefore free for general use. Product liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. -
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. -
Dravet Syndrome Fact Sheet
Dravet Syndrome Fact Sheet What is Dravet Syndrome? • Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. • Dravet syndrome is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment, in addition to seizure activity, that stem from the genetic mutation that causes the disease. • Children with Dravet syndrome do not outgrow their condition and the care required can severely impact quality of life for the individual and their family.1 • Dravet syndrome is not usually caused by an inherited mutation. – In 90% of these patients, the mutation is not found in the patient’s parents.1 • Approximately 85% of those diagnosed with Dravet syndrome have a mutation of the SCN1A gene.1 2 – The gene encodes the voltage-gated sodium channel type 1 alpha subunit Nav1.1. • Genetic testing via an epilepsy panel, which tests for SCN1A and other genes commonly associated with epilepsy, should be considered with patients exhibiting specific symptoms. • Dravet syndrome was first identified by French psychiatrist and epileptologist, Charlotte Dravet in 1978, however there are currently no treatments available that address the underlying cause of the disease. Symptoms and Effects • The effects of Dravet syndrome are not limited to seizures.1 • More than 90% of patients suffer from at least one non-seizure comorbidity, including: – Severe intellectual disabilities – Severe developmental disabilities – Motor impairment – Speech impairment – Autism – Behavioral difficulties – Sleep abnormalities Early Death • Dravet syndrome has a high rate of premature death due to the severity of this type of epilepsy. -
International Symposium “Dravet Syndrome and Other Sodium Channel Related Encephalopathies”
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 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 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. -
Reply to Dravet, C. Different Outcomes of Acute Encephalopathy After Status Epilepticus in Patients with Dravet Syndrome
brain sciences Reply Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889” Paola De Liso 1, Virginia Pironi 1,2, Massimo Mastrangelo 3, Domenica Battaglia 4, Dana Craiu 5, Marina Trivisano 1 , Nicola Specchio 1 , Rima Nabbout 6 and Federico Vigevano 1,* 1 Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy; [email protected] (P.D.L.); [email protected] (V.P.); [email protected] (M.T.); [email protected] (N.S.) 2 Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Institute of Pediatrics, Policlinico Universitario Gemelli Foundation, Catholic University of Rome, 00168 Rome, Italy 3 Paediatric Neurology Unit, V. Buzzi Hospital, A.O. ICP, 20019 Milan, Italy; [email protected] 4 Department of Child Neurology and Psychiatry, Policlinico Universitario Gemelli Foundation, Catholic University of Rome, 00153 Rome, Italy; [email protected] 5 Department of Neurology, Paediatric Neurology, Psychiatry, Neurosurgery, “Carol Davila” University of Citation: De Liso, P.; Pironi, V.; Medicine of Bucharest, Full Member of European Reference Network EpiCARE, 050474 Bucharest, Romania; Mastrangelo, M.; Battaglia, D.; [email protected] Craiu, D.; Trivisano, M.; Specchio, N.; 6 Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker-Enfants Malades Hospital, Imagine Nabbout, R.; Vigevano, F. Reply to Institute, INSERMU1163, Paris Descartes University, Full Member of European Reference Network EpiCARE, Dravet, C. -
Neurologist Cautious on Oil's Benefits
Sidebar published December 8, 2014 Neurologist CAUTIOUS oN OIL’s BeNeFITS STORY 7 BY JOHN INGOLD Charlotte Dravet’s message to parents is ferent triggers, such as fever. simple: Don’t move. In a paper published in 1978, Dravet called As the namesake for the severe form this new form “severe myoclonic epilepsy in of epilepsy that afflicts many children ar- infancy.” The world would come to call it riving in Colorado for medical marijuana Dravet syndrome. And it was a monster. treatment, Dravet said parents often ask The children in Dravet’s clinic seized con- her about whether moving to Colorado is stantly with little muscle jerks. Their mental worth it. She tells them to wait. development often hit a wall before their “It seems too early to change all the life preschool years, but their bodies collapsed of a family at this stage of the knowledge into old age. They bent forward and stuck on this compound,” she wrote in an e-mail their buttocks out as they walked. Their feet to The Denver Post. turned out, and their ankles crooked inward. Studying neurology in the south of It was as though her clinic in Marseille were France in the 1960s, Dravet worked under filled with Benjamin Buttons, the boy from a professor named Henri Gastaut. Their re- literature who ages in reverse. search led him and another doctor to de- Dravet understands the desperation that fine a different type of rare epilepsy, Len- parents feel when looking for treatment for nox-Gastaut syndrome, that many families their children.