NEW EDITION EPIGENS 2024
II Update Course in Genetic Epilepsies
and Precision Medicine in Spanish
Thursday 7th and Friday 8th November 2024
EPIGENS COURSE 2024
II Update Course in Genetic Epilepsies and Precision Medicine in Spanish
PROGRAM (in English)
Lectures in Spanish time: UTC/GMT +1
First day
15:30 – 15:40
Presentation of the course. Antonio Gil-Nagel, Hospital Ruber Internacional, Madrid.
15:40 – 17:20
Diagnosis: current situation and immediate future. Moderator: Álvaro Beltrán-Corbellini, Hospital Ruber Internacional, Madrid.
• 15:40-16:00 Indications and types of genetic studies in epilepsy. Álvaro Beltrán-Corbellini, Hospital Ruber Internacional, Madrid.
• 16:00-16:20 Reinterpretation of variants of uncertain significance and non-informative studies in the exome. María Calvo, Blueprint Genetics, Madrid.
• 16:20-16:40 The study of the whole genome in patients with epilepsy. Pablo Lapunzina, Hospital de La Paz y CIBERER, Madrid.
• 16:40-17:00 Polygenic contributions in epilepsy. Eduardo Pérez Palma, Universidad del Desarrollo, Santiago de Chile, Chile.
• 17:00-17:20 Integration of epigenomics and proteomics in the study of patients with epilepsy. Manuel Álvarez Dolado, Laboratorio de Terapia Celular en Neuropatologías, CABIMER, Sevilla.
17:20 – 17:40
17:40 – 17:50
17:50 – 19:30
Clinic 1: current situation and immediate future. Moderator: Antonio Gil-Nagel.
• 17:50-18:10 Classic encephalopathies: West Syndrome and Lennox-Gastaut Syndrome. Antonio Gil-Nagel, Hospital Ruber Internacional, Madrid.
• 18:10-18:30 Dravet Syndrome. Andreas Brunklaus, Royal Hospital for Children, Glasgow, Reino Unido.
• 18:30-18:50 Other sodium channelopathies: SCN2A, SCN8A. Rikke Moller, Danish Epilepsy Center Filadelfia, Dianalund, Dinamarca.
• 18:50-19:10 Potassium channelopathies. Sarah Weckhuysen, VIB Center of Molecular Neurology, Amberes, Bélgica.
• 19:10-19:30 GRINpathies. Susana Boronat, Hospital de la Santa Creu i Sant Pau, Barcelona.
19:30 – 19:50
15:00 – 15:15
15:15 – 17:15
Clinic 2: Current situation and immediate future. Moderator: Irene García Morales, Hospital Ruber Internacional, Madrid.
• 15:15-15:35 Encephalopathy in relation to PCDH19. Paloma Parra Díaz, Hospital Universitario Ramón y Cajal, Madrid.
• 15:35-15:55 CDKL5 deficiency syndrome. Pasquale Striano, Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
• 15:55-16:15 Synaptopathies: STXBP1 and SYNGAP1. Dennis Lal, McGovern Medical School Houston (TX), Epilepsy Center of the Cleveland Clinic (OH), EE.UU.
• 16:15-16:35 Tuberous sclerosis and other mTORpathies. Sara Baldassari, Paris Brain Institute, ICM, Paris, Francia.
• 16:35-16:55 Dup15 and other CNVs in epilepsy. Nicola Specchio, Ospedale Pediatrico Bambino Gesù, Roma, Italia.
16:55 – 17:15
17:15 – 17:30
17:30 – 18:50
Therapeutic approach: current situation and immediate future. Moderator: Rafael Toledano, Hospital Ruber Internacional, Madrid.
• 17:30-17:50 Drug repositioning. Beatriz González Giráldez, Hospital Fundación Jiménez Díaz, Madrid.
• 17:50-18:10 Cause-directed therapies. Stephan Auvin, Robert Debré Universtary Hospital, Paris, Francia.
• 18:10-18:30 The genetic study in epilepsy surgery. Rafael Toledano, Hospital Ruber Internacional, Madrid, España.
• 18:30-18:50 The importance of the associative movement. Ana Mingorance, Dracaena Consulting, Asociación Afectados CDKL5.
18:50 – 19:10
Illustrative cases of precision medicine:
– The importance of diagnosis in adults. Irene García Morales, Hospital Ruber Internacional, Madrid.
– The importance of reverse phenotyping. Irene Sánchez-Miranda Román, Hospital Ruber Internacional, Madrid.
19:10 – 19:30
19:30 – 19:35
Patrocinadores
Oro
Plata
Bronce
Con el Aval Científico de la Sociedad Española de Neurología:
Con el Aval Científico de SENEP:
Curso EPIGENS. II Curso de Actualización en Epilepsias Genéticas y Medicina de Precisión en Español.
Contacto
Email: info@epigens.es
Teléfono: (+34) 644 25 21 68
www.epigens.es
Redes Sociales
Webs de interés
Dirección
Programa de Epilepsia
Servicio de Neurología
Hospital Ruber Internacional
Calle La Masó, 38
28034 Madrid
España
