Actualización en el diagnóstico, tratamiento y manejo del síndrome de Dravet

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.

Ángel Aledo-Serrano MD, PhD is a neurologist and epileptologist, director of the Vithas Madrid Neuroscience Institute. His main focus of clinical and research work is in the area of neurogenetics, precision medicine and developmental and epileptic encephalopathies, including Dravet syndrome and other sodium channelopathies, MOGHE, CDKL5 deficiency disorder or SYNGAP1 encephalopathy, among others. He is very active in the social and educational aspects of DEEs, with a science dissemination platform in social media (@AledoNeuro).

Dr. Antonio Gil-Nagel Rein graduated in Medicine and received his PhD from the Complutense University of Madrid. He specialised in Neurology at the Hospital Universitario 12 de Octubre and Fellowships at the Minnesota Comprehensive Epilepsy Centre. He practiced neurology at the University of Minnesota and Gillette Children's Hospital, Minneapolis and at Rush Medical Centre, Chicago. He is Associate Chief of Service and Director of the Epilepsy Unit of the Neurology Service of the Ruber International Hospital and President of the INCE Foundation. He is Director of the Epilepsy Programme at the Ruber Internacional Hospital in Madrid. He is Professor at IE University, Ad Honorem Professor at the Biomedical Technology Centre of the Polytechnic University of Madrid, and directs the Chair of Epilepsy at the Francisco Vitoria University in Madrid. He was one of the founding members of the European Epilepsy Research Network and the European Epilepsy Monitoring Association. In addition to being a frequent speaker at national and international meetings, he is the author of several books on epilepsy and electroencephalography, and 188 articles.

Simona Giorgi holds a PhD in Health Biotechnology from Miguel Hernández University and a MS in Pharmaceutical Biotechnologies from the University of Bologna. Her career is marked by active collaboration in both basic and translational research projects, with a particular focus on the study of neurons and ion channels. During her doctorate, she led projects centered on the development of a pioneering in vitro model of human sensory neurons, achieving notable advances in the compartmentalized culture of neurons. Additionally, she expanded her experience with a stay at Semmelweis University in Budapest, where she delved into the study of in vitro models of human neurons. Currently, Simona serves as the Scientific Director at the Dravet Syndrome Foundation, where she centralizes and coordinates preclinical and clinical research projects. Her work is aimed at expanding knowledge about this rare disease, with the goal of improving the quality of life for patients and their families. Moreover, Simona is dedicated to scientific dissemination, combating the stigma associated with epilepsy and disability, and providing support to families through the promotion of research.

I graduated in Medicine from the University of Barcelona. I specialised in Neurology at the Ramón y Cajal Hospital in Madrid. At the end of my residency, for my quality of care and research, I was awarded the Final Residency prize by the Teaching Commission of the Ramón y Cajal Hospital, and after completing my residency I worked as an assistant in Neurology at the Sagrat Cor University Hospital. I completed the Cleveland Clinic course (Neurophysiology, EEG and Epilepsy Course) in 2020. After obtaining a scholarship from La Caixa for post-graduate studies, I did a two-year fellowship in Epilepsy and EEG at the Montreal Neurological Hospital (McGill University, Canada). After finishing the fellowship, I took the Canadian Society of Clinical Neurophysiologists (CSCN) exam and obtained the EEG certificate. Since October 2023 I have been working at the Transversal Epilepsy Unit of the Hospital de la Santa Creu i Sant Pau and I combine my healthcare activity with research, carrying out doctoral studies at the University of Barcelona and also collaborating in several clinical trials (Marinus and Jazz Pharmaceuticals). Finally, I am part of the Telemedicine 2.0 programme of the Recover Foundation.

Dr Toledo has more than 20 years of experience treating patients with epilepsy. He is a board member of the Spanish Society of Neurology and the Spanish Epilepsy Society. He is a scientific leader recognised for his contribution to epilepsy treatments.

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.

Fundadora y Directora de NeuroPed. Licenciada en Psicología Clínica por la Universidad Pontificia de Comillas (2002). Realizó su periodo de docencia y Diploma de Estudios Avanzados en el programa de Neurociencias en la UCM. Máster en Neurorrehabilitación por Instituto Guttman (UAB) 2007-2011 en el departamento de neuropsicología e investigación colaborando en proyectos de investigación nacional y europea en calidad de co-investigadora. Participó en el diseño y desarrollo de la plataforma de rehabilitación cognitiva NPT infantil. Gran experiencia en evaluación y tratamiento neuropsicológico de bebés, niños y adolescentes con trastornos de neurodesarrollo, daño cerebral congénito y adquirido y diversas patologías (prematuridad, enfermedades raras, discapacidad intelectual y del desarrollo). Actualmente es la Presidenta de la Asociación Madrileña de NeuroPsicología. Co-autora de la Prueba ENFEN (TEA ediciones). Participa como profesor invitado y conferenciante en jornadas, congresos y, máster y posgrados. Realizó Doctorado en Neurociencias (DEA, en la UCM). Ha desarrollado en NeuroPed una metodología única y efectiva de tratamiento consiguiendo liderar un equipo de más de 35 profesionales cuyo principal foco es el niño y su familia.