Health
Summer Course
Diagnóstico, tratamiento y manejo de las encefalopatías epilépticas y del desarrollo

Diagnóstico, tratamiento y manejo de las encefalopatías epilépticas y del desarrollo

25.Jun - 09. Jul, 2026 Cod. O08-26

Description

El síndrome de Dravet (SD), también conocido como Epilepsia Mioclónica Severa de la Infancia (SMEI), es una enfermedad neurológica de origen genético. Aproximadamente entre el 80% y el 90% de los pacientes afectados muestran una mutación en el gen SCN1A. Esta enfermedad es considerada rara, con una incidencia de 1 entre 16.000 nacimientos (1/2.500 para enfermedades poco comunes). Se estima que en España hay alrededor de 450-500 pacientes con un diagnóstico correcto de SD, aunque los datos de prevalencia sugieren que el número real podría superar los 1.500. Uno de los síntomas notables del SD es la epilepsia, que suele aparecer entre los 4 y 12 meses de edad. Inicialmente, las crisis epilépticas pueden ser confundidas con crisis febriles comunes en la infancia, pero a diferencia de estas, las crisis iniciales en el SD tienden a ser prolongadas, difíciles de controlar y pueden desencadenar estados epilépticos que requieren hospitalización en unidades de cuidados intensivos. A medida que avanza la edad, es común la aparición de otros tipos de crisis, acompañados de retraso cognitivo, trastornos neurológicos y graves alteraciones de conducta.

Un porcentaje entre el 15% y el 20% de las personas con SD fallece prematuramente debido a la enfermedad. En España, existen actualmente ocho Centros, Servicios y Unidades de Referencia del Sistema Nacional de Salud en epilepsia refractaria, los cuales podrían tratar el SD. Sin embargo, dado que el SD va más allá de ser solamente una forma de epilepsia, su tratamiento necesita un enfoque multidisciplinario que involucre a profesionales de diversas áreas de la salud. Por esto, no hay un centro específico completamente capacitado para abordar la complejidad y la necesidad multidisciplinaria que conlleva el manejo y tratamiento del SD.

El Curso de Verano aborda aspectos fundamentales para el enfoque adecuado del SD:

  1. Descripción de los signos y síntomas del SD y epilepsias relacionadas que pueden facilitar un diagnóstico clínico y genético.
  2. Discusión sobre las opciones de tratamiento emergentes para el SD en el contexto del paradigma de tratamiento actual.
  3. Descripción del papel del equipo multidisciplinar en el manejo de los pacientes con SD.
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Objectives

Introducir al alumnado en el conocimiento de una enfermedad que, por su condición de poco frecuente, difícilmente estudiarán durante sus años de entrenamiento como futuros médicos.

Adelantarse a la educación que estos estudiantes recibirán durante futuras residencias formativas en centros y unidades docentes acreditadas para la adquisición de competencias profesionales propias de su especialidad.

Introducir o ampliar los conocimientos del alumnado profesional acerca de una enfermedad severa infradiagnosticada y no siempre bien atendida.

Generar el interés del alumnado por trabajar en un futuro con un grupo de pacientes y familias que necesita de profesionales preparados que le proporcione todos los cuidados a su alcance.

Generar a su vez el interés del alumnado por investigar en SD.

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Activity directed to

  • All public
  • University student
  • Students not from university
  • Professionals

In collaboration with

  • Osasun Saila - Eusko Jaurlaritza
  • Osakidetza

Program

25-06-2026

15:30 - 15:40

Presentation by the Director of the activity

  • José Ángel Aibar --- | Fundación Síndrome de Dravet - PresidenteLanguage: Español
15:40 - 16:20

“Signos y síntomas diferenciales del SD y otras EEDs“

  • Ponente a determinar Language: Español
16:20 - 17:00

“Diagnóstico genético de EEDs, interpretación práctica de paneles, exomas y reanálisis“

  • Carmen Fons Estupiñá | Hospital Sant Joan de Déu - Jefa del área de Neurología y Neurofisiología pediátricaLanguage: Español
17:00 - 17:20

Break

17:20 - 18:00

“Retos clínicos y errores diagnósticos frecuentes en EEDs“

  • Ángel Aledo Serrano | Blua Sanitas Valdebebas Hospital - Neurólogo y EpileptólogoLanguage: Español
18:00 - 18:10

Synthesis

02-07-2026

15:30 - 15:35

Presentation by the Director of the activity

  • José Ángel Aibar --- | Fundación Síndrome de Dravet - PresidenteLanguage: Español
15:35 - 16:15

“Fármacos antiepilépticos tradicionales y nuevos fármacos en desarrollo para EEDs“

  • Vicente Villanueva Haba | Hospital Universitario y Politécnico La Fe - Jefe de la Unidad de Epilepsia Refractaria y del Programa de Cirugía de EpilepsiaLanguage: Español
16:15 - 16:55

“Terapia de precisión y terapia génica para EEDs“

  • Simona Giorgi --- | Fundación Síndrome de Dravet - Directora CientíficaLanguage: Español
16:55 - 17:15

Break

17:15 - 17:50

“Función de los miembros del equipo central y otros profesionales, terapias no farmacológicas para EEDs “

  • Eulàlia Turón Viñas Language: Español
17:50 - 18:00

Synthesis

09-07-2026

15:00 - 15:35

Presentation by the Director of the activity

  • Simona Giorgi --- | Fundación Síndrome de Dravet - Directora CientíficaLanguage: Español
15:35 - 16:00

“Manejo de crisis prolongadas en EEDs“

  • Julián Lara Herguedas Language: Español
16:00 - 16:25

“Perspectiva de las familias en el itinerario asistencial del SD“

  • José Ángel Aibar --- | Fundación Síndrome de Dravet - PresidenteLanguage: Español
16:25 - 16:45

Break

16:45 - 17:20

“La importancia del equipo multidisciplinar para paciente y cuidador“

  • Esther Moraleda Sepulveda | Universidad Complutense - Profesora en Facultad de PsicologíaLanguage: Español
17:20 - 17:50

“Transición a la vida adulta“

  • Sergio Aguilera Albesa Language: Español
17:50 - 18:00

Closing session

  • Simona Giorgi --- | Fundación Síndrome de Dravet - Directora CientíficaLanguage: Español

Directors

Simona Giorgi ---

Fundación Síndrome de Dravet

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.

José Ángel Aibar ---

Fundación 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.

Speakers

Ponente a determinar

Sergio Aguilera Albesa

José Ángel Aibar ---

Fundación 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

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).

Carmen Fons Estupiñá

La doctora Fons es la Jefa del área de Neurología y Neurofisiología pediátrica del Hospital Sant Joan de Déu y experta en epilepsias complejas y genéticas de debut precoz y en neurología fetal-neonatal. Es profesora asociada del grado de Medicina de la UB y directora del Master en Neuropediatría y de epileptología del HSJD-UB. Lidera la línea de investigación de Epilepsias neonatales y genéticas del IRSJD. Miembro del Centro de Investigación Biomédica en Red de Enfermedades raras (CIBERER), del International Consortium for the Research on Alternating Hemiplejia of Childhood (IAHCRC), co-coordinadora del WP-convulsiones neonatales de la European Reference Network en Epilepsias Compleas (EPICARE). Participa como IP en proyectos competitivos nacionales y Europeos relacionados con epilepsias genéticas

Simona Giorgi ---

Fundación Síndrome de Dravet

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.

Julián Lara Herguedas

Hospital Puerta de Hierro Majadahonda

Víctor Soto Insuga is a neuropaediatrician, accredited by the Spanish Society of Neuropaediatrics (SENEP). He carries out his healthcare and research work in the Neurology Service of the Hospital Niño Jesús, belonging to the Epilepsy Unit. He holds a PhD cum laude from the Universidad Autónoma de Madrid, having presented his thesis on genetics and epilepsy. He is a Medical Specialist in Sleep (accredited by the CEAMS). Julián Lara is an Assistant Neuropediatrics Physician at the Puerta de Hierro University Hospital – Majadahonda in Madrid. Specific Training Area in Pediatric Neurology granted by the Spanish Society of Pediatric Neurology. Own Title Specialist in Childhood Disability from the Complutense University of Madrid. Member of the Scientific Advisory Committee of the Dravet Syndrome Foundation. Currently, he is coordinator of the Epilepsy Group of the Spanish Neuropediatric Society (SENEP). In recent years he has promoted the development of different integration projects in epilepsy and other neurological diseases.

Esther Moraleda Sepulveda

La Dra. Esther Moraleda Sepúlveda es una investigadora y docente especializada en psicología básica y logopedia. Con doctorado en Psicología por la por la Universidad de Castilla-La Mancha con la tesis Perfil morfosintáctico e intervención logopédica en niños con síndrome de Down 2013. Dirigida por Dr. Miguel Lázaro López-Villaseñor, Dr/a. Elena Garayzábal. Se desempeña en la Universidad Compluense de Madrid dirigiendo proyectos sobre alteraciones del lenguaje en poblaciones clínicas. Es docente en el Grado de Logopedia de la UCM y en los másteres de Especialización en Desarrollo Comunicativo y Lingüístico (0‑6 años) y el de Observación y análisis de conducta comunicativa. Su trayectoria combina docencia con la dirección de tesis, amplia producción académica y compromiso con la divulgación científica.

Eulàlia Turón Viñas

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 Haba

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.

Registration fees

Live onlineUntil 25-06-2026
10,00 EUR
3,00 EUR

Venue

25 junio-2 julio-09 julio

Online en directo

Live online

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Agenda 2030 is the new international development agenda approved in September 2015 by the United Nations. This agenda aims to be an instrument to favour sustainable human development all over the planet, and its main pillars are the eradication of poverty, a reduction in equality and vulnerability and fostering sustainability. It is a unique opportunity to transform the world up to 2030 and guarantee human rights for all.

Sustainable development goals

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3. Health and well-being