Diagnóstico, tratamiento y manejo del síndrome de Dravet

Elena Cardenal Biologia Molekularrean eta Biomedikuntzan doktorea da. Urte askoz Espainian eta Suizan zientzilari lanean aritu da. Azken urtetan, Elenaren karrera kudeaketa eta komunikazio zientifiko aldera jo du, Life Siences Switzerland (LS2) erakunderako zientzia-zuzendari lanetan, baita erakunde zientifiko anitzetan sare sozialen editore eta kudeatzaile lanetan ere. Gaur egun, Elena Dravet Sindrome Fundazioko Ikerketa Zuzendaria da, gaixo erakunde honek martxan jarritako zientzia eta medikuntza jarduera guztien plangintza, antolakuntza, sustapena eta zuzendaritzaz arduratuz.

Jose Ángel Aibar has an international background in both electronics and aerospace engineering, and holds a management position in a leading technology company. One of his children has Dravet syndrome, which gave him the motivation to become involved with the Dravet Syndrome Foundation Spain, where he serves as president and chief executive officer since June 2018.

Carla is a Psychology graduate by Universidad de Valencia. Plus, later, she studies two psychology master, learning child and clinic neuropsychology in the Superior Psychological Study Institute (ISEP). Her professional and before career has always been related to intellectual and developmental discapacities, being a volunteer in different entities and carrying out a variety of programs aiming at making disabled people’s lives better, such as: leisure and independent living programs, educational reinforcement, bullying and addiction prevention programs and labor formation on protected work programs in the ecologic agriculture area.

Susana Boronat MD, PhD, was trained as a pedriatic neurologist in Vall d-Hebron hospital, in Barcelona, where later she did most of her neuropedriatic clinic work, specializing herself in dismophologic syndroms and genetic based neurologic illnesses. She undertook her PhD on type 1 Chiari malformation at the Universitat Autònoma de Barcelona. From 2011 to 2013 she carried out a clinic investigation fellowship in Massachusetts General Hospital, in Boston, at the children epilepsy and tuberous sclerosis department, directed by Dr. Elisabeth Thiele, and completed her education in research, neurogenetics and dysmorphology in Harvard University. From 2016 to 2018, she worked as a clinic geneticist at the Vall d’Hebron hospital Genetics Unit. Since 2018 she is the pediatric director of la Santa Creu i Sant Pau hospital in Barcelona. She keeps working as a neuropedriatist and clinic geneticist, focusing on genetic based epilepsy.

EDUCATIONAL BACKGROUND Degree: Medicine and Surgery from the University of Barcelona (UB) (1996-2002). Specialist degree: Pediatrics and its specific areas. Hospital Sant Pau (2003-2007). Master in Neuropediatrics by the University of Barcelona. Sant Joan de Déu Hospital (2008-2010). Doctorate in the Pediatrics, Obstetrics and Preventive Medicine and Public Health program at the Universitat Autònoma de Barcelona (UAB) September 2020. Epilepsy Fellowship at Hospital del Mar (2020 – 2021) PROFESSIONAL EXPERIENCE Pediatrician specialized in Neuropediatrics and Pediatric Critical Care. Management of pediatric neurocritical patient. Coordinator of the Neuropediatrics Unit at Hospital Sant Pau. Coordinator of the Epilepsy Unit’s pediatrics section at Hospital del Mar – Hospital Sant Pau Associate Professor of the Degree of Medicine of the UAB, of the Master of Neuropsychology of the UAB - Hospital Sant Pau and of the Master of Pediatric Nursing of the UB - Hospital Bellvitge.

Vicente Villanueva MD, PhD, is a neurologist in Hospital La Fe, Valencia, since 2004. Since 2005 he also works at the La Fe Multidisciplinary Epilepsy Unit, where he is Head of the Refractory Epilepsy Unit and Epilepsy Surgery Programme. He serves as a representative of the European Reference Network Epi-CARE and is a member of the ILAE Intellectual Disability Task Force. He is an Associate Professor of Neurology at the Univ. of Valencia since 2017. Dr Villanueva undertook his training at Fundación Jiménez Diaz in Madrid (ES), Epilepsy Center of Univ. of Alabama (US), Epilepsy Center of New York Univ. (US) and Hôpital Saint-Vincent de Paul in Paris (FR). His current research interests include refractory epilepsy, video-EEG monitoring, and epilepsy clinical trials and surgery. Vicente is a member of the EEG board and the Epilepsy Guidelines Board of the Spanish Neurological Society, which awarded him in 2014 with the Scientific Prize in epilepsy and author of more than 100 articles about epilepsy.

Dr. Patricia Smeyers is a Child Neurologist at of Hospital Univ. y Politécnico La Fe in Valencia, being the head of the pediatric section of the Multidisciplinary Functional Unit CESUR of Refractory Epilepsy and Epilepsy Surgery. PhD in Medical Genetics and awarded with the Extraordinary Prize by the University of Valencia for her Doctoral Thesis on Clinical Molecular Genetics of Friedreich's Ataxia, contributing to the isolation of the responsible gene. Neurology, Pediatrics and Clinical Neurophysiology specialist, she made training stays in epilepsy at King's College Hospital in London (UK) and at the University of Göteborg (SE). With a Childcare degree and a Clinic Neuropsychology PhD. In addition to her dedication to a lot of scientific activities of interest in the field of refractory epilepsies of genetic origin, her social involvement stands out with the publication of children's stories to understand epilepsy, a work awarded in 2011 by the Spanish Society of Neurology (SEN).